Genetics: Understanding the Role of Human Genetics in Evolution and Chromosome Analysis, Exams of Nursing

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HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ To visualize chromosomes, chromosomes must be: - Answer-extracted, stained with dyes and DNA probes Genetics - Answer-The study of inherited traits and their variation What notable event occurred in 1859? - Answer-Charles Darwin hypothesized pangenesis, and termed gemmules What was Darwin's provisional hypothesis of pangenesis? - Answer-Traits could be passed down through gemmules (small particles that traveled from every body part to the sexual organs where they were stored) According to Darwin, what was responsible for the transmission of characteristics from parent to offspring? - Answer-Gemmules What book did Charles Darwin write in 1859? - Answer-On the origin of species, or Preservation of Favored Races in the Struggle for Life True or false; Gregor Mendel's theories were immediately recognized in the world of science - Answer-false, Mendel's work was not recognized until the 20th century What two individuals have been credited for laying the foundation for formulating the theory of heredity? a.) Avery ET all and Miescher b.) Darwin and Morgan c.) Crick and Watson d.) Mendel and Darwin - Answer-d.) Darwin and Mendel Who developed the rules of inheritance in 1866? - Answer-Gregor Mendel HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Rules of inheritance - Answer-Alleles of the same gene separate during gamete formation Alleles of different genes are inherited independently What did T. Hunt Morgan and his students study in 1911? - Answer-Fruit fly chromosomes-- determined that chromosomes carry genes What occurred in 1953 in the world of genetics? - Answer-The DNA double helix was determined Who determined the double helix structure of DNA - Answer-James Watson and Francis Crick What occurred in 1955 in the world of genetics? - Answer-Joe Hin Tijo defined 46 as the exact number of chromosomes in human cells Who discovered that there are precisely 46 chromosomes in the human cell? - Answer-Joe Hin Tijo What occurred in 1959 - Answer-Chromosome abnormalities were identified. Specifically, Down syndrome is caused by trisomy 21 Who discovered that Down syndrome is caused by trisomy 21? - Answer-J. Lejeune and his colleagues What occurred in 1966 that affected the world of genetics? - Answer-It was determined the genetic code that allows nucleic acids with their 4-letter alphabet to determine the order of 20 kinds of amino acids in proteins HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ The gene pool is the sum of: - Answer-alleles in a population Population genetics - Answer-Based on analyzing allele frequencies in a population and determining whether these frequencies change over time What is the foundation for the study of biological evolution and inheritance of complex traits? - Answer-Population genetics How are genes studied in population genetic analysis? - Answer-assessing the variability among individuals in a group of organisms True or false; cows are an example of selective breeding in agriculture - Answer- true Sir Archibald Garrod published which book? - Answer-Inborn Errors of Metabolism Pharmacogenomics - Answer-the study of how genetic inheritance affects the body's response to drugs Genome or - Answer-whole exome What did Sir Archibald Garrod hypothesize? - Answer-metabolic abnormalities are caused by mutant alleles, and are inborn errors of metabolism Genetic counselors advise people about: - Answer-the inheritance of genetic diseases What scientist discovered Genetic Transformation in 1928? - Answer-Frederick Griffith HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Frederick Griffith worked with which bacteria? - Answer-Streptococcus Pneumoniae What occurred in 1869? - Answer-F. Miescher isolated DNA from cells for the first time, calls it nuclein Nuclein - Answer-the original name given to DNA when it was discovered in the nucleus of cells by Friedrich Miescher in 1869 When was Mendel's work rediscovered? - Answer-1900 Who were the botanists that rediscovered Mendel's work independently while doing their own work on the laws of inheritance? - Answer-Devries, Correns, and von Tschermak What occurred in 1902? - Answer-Chromosome theory of inheritance-- segregation during meiosis matched Mendel's segregation patterns Who observed the chromosome theory of inheritance, and matched it with Mendel's theories? - Answer-W. Sutton When was the discipline of genetics created? - Answer-1906 When was the word 'gene' coined? - Answer-1909 Who coined the word 'gene,' 'genotype,' and phenotype? - Answer-W. Johannsen What occurred in 1911 in the field of genetics? - Answer-T. Hunt Morgan and his students determined that chromosomes carried genes and discovered genetic linkage HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ How was the first animal gene cloned? - Answer-Researched fused a segment of DNA that contained a gene from Xenopus (African clawed frog) with DNA from E. coli, placed resulting DNA into an E. Coli Cell. The E. coli’s DNA then directed the production of the frog's protein! What happened in 1975 that affected the world of genetics? - Answer-Rapid DNA sequencing methods are produced What two separate groups developed rapid DNA sequencing methods? - Answer- Sanger and colleagues, and Maxam and Gilbert What DNA sequencing technique is commonly employed in the lab today? - Answer-Sanger and Colleagues What occurred in 1981 that affected the world of genetics? - Answer-Scientists successfully added inherited stable genes to mice and fruit flies What occurred in 1982 that affected the world of genetics? - Answer-GenBank Database was formed; Scientists submitted DNA sequence data to the National Institute of Health database In 1983, what happened in the world of genetics? - Answer-PCR was invented Why did PCR revolutionize genetics? - Answer-it gave the opportunity to amplify what data you could get from one cell; you only needed one cell, where before, you needed millions of cells. PCR - Answer-Used to amplify a specific segment of DNA, allowing researchers to quickly make billions of copies of a specific DNA segment. Allows for easier studying of a gene. HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ What are the two states of Streptococcus Pneumoniae? - Answer-T and R state Streptococcus S state - Answer-Bacteria is smooth and enclosed in a polysaccharide capsule Streptococcus T state - Answer-Bacteria is rough, there is no capsule Transformation - Answer-Conversion of one bacterial type into another (ex: T state --> S state) Who discovered the transforming principle in 1944? - Answer-Avery, Macleod and McCarty the transforming principle was discovered in what year? - Answer-1944 Which of the following is false about Griffith's experiments? a.) Type R Streptococcus was used as a control group b.) Type R streptococcus was used as an experimental group c.) Heat-killed smooth Type-S bacteria were not virulent d.) Heat-killed smooth streptococcus contained a polysaccharide capsule - Answer- c.) is false-- they were virulent Which combo(s) would result in a dead mouse? a.) Type R alone b.) Type S (heat killed) c.) Type R + heat killed Type S d.) none of the above would result in a dead mouse - Answer-c.) This is the basis of genetic transformation HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ True or false; heat-killed type S bacteria no longer killed mice, unlike Type S bacteria - Answer-true True or false; Type R transferred its killing trait to type S bacteria - Answer-false-- types bacteria transferred its killing trait to type R bacteria Which bacteria did Avery, MacLeod, and McCarty work with? - Answer-Heat- treated type S streptococcus How did Avery, MacLeod, and McCarty work with the Transforming Principle? - Answer-They treated lysed S bacteria with a protease and DNase, and determined that only by breaking apart the DNA, the mouse would live Would a protease be sufficient in protecting the mouse from heat-killed smooth virulent DNA? - Answer-no In Griffith's experiments, which Streptococcus combinations resulted in dead mice? - Answer-Smooth Virulent Bacteria, and Heat-killed Smooth virulent bacteria + Rough Nonvirulent bacteria What were the conclusions of Griffith's experiments? - Answer-1. Type R bacteria do not kill mice 2. Type S bacteria kill mice 3. Heat-killed type S bacteria no longer kill mice 4. Type S bacteria transferred killing trait to type R bacteria How did they determine that Heat killed smooth virulent bacteria and rough nonvirulent bacteria underwent transformation? - Answer-After the mouse died, live type S bacteria was detected in the sample of the dead mouse, despite not being actually used. This was thought to be because Heat-Killed Smooth virulent bacteria transferred the S trait to the livinh R-type :) HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ KEEP GOING!! You're doing good - Answer-:) Which of the following is false regarding Avery, MacLeod, and McCarthy's experiments? a.) They treated lysed R bacteria with proteases and DNases b.) Only DNases prevented the transformation c.) it was determined that DNA was the transforming principle d.) DNA was capable of converting Type R bacteria into S - Answer-a.) is false-- They treated lysed S bacteria with protease and DNase Transforming principle - Answer-Substance responsible for transformation. DNA is the transforming principle. How did Avery (et all) determine that DNA was the transforming principle? - Answer-They lysed Heat-killed type S bacteria, and sought to see whether a protease or DNase would inhibit the transformation of bacteria, or result in a living mouse. In transforming conditions ( HK type S + type R), protease did not save the mouse while DNase did. This is how they determined that, by breaking down the DNA, they could inhibit bacterial transformation, thus determining that DNA is the transforming principle. True or false; Avery et al isolated proteins by using protease (T/F) - Answer- FALSE, they would have used DNase to isolate protein True or false; Avery et al isolated DNA by proteases (T/F) - Answer-true Who was responsible for determining that protein did not transmit genetic information? a.) Griffith b.) Avery et al HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ What discovery in genetics occurred in 1951? - Answer-Adenine (A) + Guanine (G) = Thymine (T) + Cytosine (C) A = T and C = G (Yay Erwin Chargaff) What did Erwin Chargaff discover in 1951? - Answer-He observed the relationship: Adenine (A) + Guanine (G) = Thymine (T) + Cytosine (C) A = T and C = G Sum of purines = sum of pyrmidines Purines - Answer-Bases with a double-ring structure. Adenine and Guanine Pyrmidines - Answer-Bases with a single-ring structure. thymine and cytosine What nationality was Erwin Chargaff? - Answer-Austrian-American What did Rosalind Franklin and Maurice Wilkins discover in 1952? - Answer- DNA is a helix with symmetrically organized subunits How did Rosalind franklin come to her conclusions? - Answer-she used X-ray diffraction, where she deduced the structure HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ What did Watson and Crick determine in 1953? - Answer-They deduced the structure of DNA using Rosalind Franklin's X-ray photos, and determined that base pairs hold the DNA chains together When did Watson and crick deduce the structure of DNA? - Answer-1953 According to crick, genetic material must carry out two jobs: - Answer-it must duplicate itself and control the development of the rest of the cell in a specific way True or false; Watson and crick performed experiments to come to their conclusions in 1953? - Answer-FALSE What were the 3 main conclusions that Watson and crick came to in 1953? - Answer-1. Nucleotides are linked in a chain through sugar-phosphate interactions 2. DNA molecules are made of two chains of nucleotides wound around each other in a helix 3. Base pairs (A=T and G=C) hold the chains together Give an example of complementary base pair - Answer-Adenine-thymine How many hydrogen bonds exist between C and G? - Answer-3 How many hydrogen bonds exist between A and T? - Answer-two Sketch out two DNA nucleotides linked together - Answer- each nucleotide is composed of: - Answer-A deoxyribose sugar, a phosphate group, and a nitrogenous base Adenine - Answer- HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Thymine - Answer- Cytosine - Answer- Guanine - Answer- Polynucleotide chains are _______ (orientation) relative to one another - Answer- Anti-parallel When two polynucleotide chains align, they form: - Answer-a double helix Antiparallelism - Answer-opposing orientation, head-to-toe configuration the head-to-toe conformation of the DNA double helix is derived from the structure of: - Answer-the sugar-phosphate backbone Gene - Answer-section of a DNA molecule Allele - Answer-variant of a gene What is a single building block of a gene? - Answer-nucleotide What does a gene specify? - Answer-the sequence of amino acids in a particular protein What size is naked DNA? - Answer-2 nm What size is DNA in "beads on a string" formation? - Answer-11 nm How many base pairs of DNA are wound around histones? - Answer-146 HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ 2. Store info 3. Express info 4. Allow variation by mutations Reverse transcription - Answer-going from transcript (RNA) to Gene (DNA) Which researchers came up with the semiconservative replication model? - Answer-Watson and Crick What allows DNA strands to serve as templates? - Answer-Arrangement and nature of nitrogenous bases Semiconservative replication - Answer-Method of DNA replication in which parental strands separate, act as templates, and produce molecules of DNA with one parental DNA strand and one new DNA strand True or false; complementarity of DNA strands allows each strand to serve as template for synthesis of the other - Answer-true! Describe the 7 steps of DNA replication - Answer-1. Helicase binds to the origin and separates strands of DNA 2. binding proteins keeps strands apart 3. primase makes a short stretch of RNA on the DNA template 4. DNA polymerase adds DNA nucleotides to RNA primer 5. DNA polymerase proofreading activity checks and replaces incorrect bases 6. Continuous and discontinuous strand synthesis continues in the 5' to 3' direction 7. Enzymes remove primers, ligase seals sugar-phosphate backbone Where does Helicase bind to? - Answer-Origin _____ proteins keep DNA strands apart during replication - Answer-binding HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Primase - Answer-An enzyme that joins RNA nucleotides to make the primer using the parental DNA strand as a template. Okazaki fragments - Answer-Small fragments of DNA produced on the lagging strand during DNA replication, joined later by DNA ligase to form a complete strand. What is the direction of DNA replication? - Answer-5--3 What proofreads and replaces incorrect bases placed during DNA replication? - Answer-DNA polymerase Ligase seals" - Answer-sugar-phosphate backbone True or false; DNA replication proceeds nondirectionally from a single start site - Answer-FALSE True or false; DNA replication proceeds directionally from multiple start sites The sites of replication on DNA resemble - Answer-bubbles Replication bubbles coalesce as: - Answer-daughter double helices form DNA replication rate - Answer-50 nt/sec How many bases total? - Answer-3 x 10^9 True or false; parental strands unwind and separate at several points - Answer-true, this is how replication happens so efficiently HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ What is a DNA amplification technique used commonly in labs? - Answer-PCR PCR uses what enzyme to rapidly replicate a specific DNA sequence in a test tube? - Answer-DNA polymerase After 30 cycles, PCR yields _______ copies of the target DNA sequence - Answer- 10 billion copies True or false; PCR is nonspecific and slow - Answer-false-- PCR is incredibly specific, and exponential DNA amplification steps (with PCR) - Answer-1. Select target sequence in virus genome 2. make primers 3. make free nucleotides available 4. provide a heat-resistant polymerase 5. Increase temperature to identify target sequence 6. reduce heat to separate strands 7. Primers hybridize due to base complementarily 8. DNA fills in 9. Process repeats, and identical pieces of DNA accumulates exponentially True or false; the virus target sequence in genome must be known in order to do PCR - Answer-true! Because you need to be able to synthesize complementary primers; in order to do so, you must know the bases PCR results in (identical/different) pieces of DNA accumulating (exponentially/linearly) - Answer-Identical, exponential Uses of PCR - Answer-amplifies DNA from extinct animals, identifying specific pathogens and microorganisms that cannot grow in lab, the brain of a 7,000 year HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ True or false; gene expression is both ubiquitous and tightly controlled - Answer- true Ubiquitous genes - Answer-housekeeping genes Housekeeping genes are responsible for what cellular processes? - Answer- Replication and metabolism Tightly controlled gene cellular processes - Answer-specific cells, specific times, in response to specific signals Would protein synthesis be controlled by ubiquitous genes or tightly controlled? - Answer-Tightly controlled Small nuclear RNA and microRNA control: - Answer-gene expression mRNA - Answer-Carries information that specifies a particular protein, encoding the amino acid sequence Codon - Answer-3 mRNA bases in a row, specifies an amino acid More mRNA are ___ to ______ bases long - Answer-500 to 4500 rRNA - Answer-Associated with proteins to form ribosomes, Ribosomal RNA Ribosomes consist of ___ subunits that join during protein synthesis - Answer-2 most rRNA are from ___ to _____ bases long - Answer-100 to 3000 The large subunit of rRNA is _____ RNA bases long - Answer-5,347 HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ The large subunit of rRNA is made of ____ proteins - Answer-47 How many molecules consist of the large subunit? - Answer-3 The small subunit of rRNA is _____ RNA bases long - Answer-1869 The small subunit of rRNA is made of ____ proteins - Answer-32 How many molecules consist of the small subunit? - Answer-1 What molecule provides structural support and catalytic activity for ribosomes? - Answer-rRNA ribozyme - Answer-a type of RNA that can act as an enzyme tRNA - Answer-binds an mRNA codon to a specific amino acid How many bases long are tRNA? - Answer-75-80 What molecule is identifiable by it's 2D cloverleaf shape, and 3D shape of an inverted L? - Answer-tRNA the tRNA has ___ ends - Answer-2 tRNA ends: - Answer-anticodon, and amino acid-binding end anticodon - Answer-complementary to a mRNA codon The anticodon is the ____ binding site a.) DNA b.) mRNA HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ c.) Protein d.) tRNA - Answer-b.) mRNA The mRNA binding site is located where on tRNA? - Answer-Loop 2 The amino acid accepting site is located where on tRNA? - Answer-3' end Transcription initiation - Answer- Transcription factors - Answer-proteins that initiate transcription and recognize specific sequences in the promoter region of a gene What proteins are responsible for initiating transcription at specific sites on Chromosomes - Answer-transcription factors A ______ protein recognizes the TATA region and binds to the DNA - Answer- binding What is responsible for linking the genome to the environment? - Answer- transcription factors True or false; transcription factors respond to signals outside the cell - Answer-true How does RNA polymerase bind to DNA? - Answer-bound transcription factors form a pocket, allowing RNA polymerase to bind Transcription factors bind after: - Answer-A binding protein recognizes the TATA region of the promoter Initiation (transcription) - Answer-control point that determines which genes are transcribed HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Elongation (translation) - Answer-The large ribosomal subunit joins the small (s0mehting here( Termination of translation occurs when: - Answer-a stop codon enters the A site of a ribosome What frees the polypeptide? - Answer-protein release factor True or false; multiple copies of a protein can be made simulataneously - Answer- true Proteins fold based on: - Answer-attraction and repulsion between atoms and environment ineractions Primary structure (1*) - Answer-Sequence of amino acids in a polypeptide chain Secondary structure (2*) - Answer-Loops, coils, sheets, or other hspaes formed by hydrogen binds Hydrogen binds in the secondary structure are formed between which groups? a.) carboxyl and carbocxyl b.) carboxyl and amino c.) amino and amino d.) R groups - Answer-b Tertiary structure (3*) - Answer-3 dimensional structure forms between R groups and R groups between water Quaternary structure (4*) - Answer-protein complexes formed by bonds between separate polypeptides HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Proteins begin to fold: - Answer-after the amino acid chain winds away from the ribosome Signal sequence - Answer-first few amino acids in a protein secreted in a membrane Are signal sequences foun in all proteins? - Answer-no-- it is not found on proteins synthesized on free ribosomes The signals equence leads the protein where? - Answer-into a pore in the ER membrane Chaperone proteins - Answer-stabilize partially folded regions in their correct form what prevents proteins from getting stuck in an intermediate form? - Answer- chaperone proteins Have chaperone proteins been developed into drugs? - Answer-Yes, treats diseases that result from misfolded proteins Misfolded proteins are tagged with - Answer-ubiquitin Proteins with multiple ubiquitins are taken to a: - Answer-proteasome Proteasome - Answer-tunnel-like multiprotein structure that straightens and dismantles other proteins Proteasomes destroy - Answer-properly folded proteins in excess/no longer needed, and misproperly folded proteins HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Proteins misfold from: - Answer-a mutation, or having more than one conformation Mutations: a.) alters the attractions and repulsions of a protein b.) causes protein masses to form clogs in the proteasome, inhibiting their functions c.) causes neurodegeneraitve disease d.) all of the above - Answer-d How do misfolded proteins cause disorders of the brain? - Answer-The protein massesthat form clog the proteasomes and inhibit their function. Different proteins are affected indifferent disorders Alzheimer disease misfolded proteins - Answer-amyloid beta precursor protein, tau proteins Familial amyotrophic lateral sclerosis misfolded proteins - Answer-superoxide dismutase, TDP-43 Frontotemporal dementia misfolded proteins - Answer-Tau proteins, TDP-43 Huntington disease misfolded proteins - Answer-Huntingtin Parkinson disease misfolded proteins - Answer-alpha synuclein Lewy body dementia misfolded proteins - Answer-alpha synuclein PKU misfolded proteins - Answer-Phenylalanine hydroxylase Prion disease misfolded proteins - Answer-prion protein HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Meta/Ana transition - Answer-Transition state that verifies that the cell is viable to exit mitosis The cell cycle is tightly controlled, and errors in regulation lead to: - Answer- Cancer In interphase: A. Chromosomes are condensed B. DNA and sub cellular structures are replicated C. Microtubules begin to polymerize from centrosomes D. B and c - Answer-B A: Chromosomes are most condensed during metaphase, not prophase C. Microtubules polymerize during metaphase At what phase can cells exit the cell cycle during interphase? - Answer-G1 Cells may exit the cell cycle at G1 to enter: - Answer-G0, a quiet phase During interphase, is the cell dividing? - Answer-No What are the characteristics of interphase? (Hint; there are 4) - Answer-1. Chromosomes are uncondensed 2. Stage when cell prepares for cell division 3. DNA and sub cellular structures are replicated 4. contains G1, S, and G2 phase G1 (Gap 1) phase Synthesizes - Answer-Proteins, lipids, and carbohydrates At what phase are genes transcribed and translated? - Answer-G1 HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ The duration of G1 in a cell depends on: - Answer-Cell type S (synthesis) phase makes: - Answer-Proteins to form the mitosis spindle, centrioles, and centrosomes and replication of DNA How long does the S phase usually take? - Answer-8-10 hours During G2 (Gap 2) phase: - Answer-DNA is already replicated, and the cell prepares for mitosis/checks that the cell is ready to proceed into mitosis Cyclins regulate: - Answer-The timing of the cell cycle at different checkpoints Cyclins associate with what molecules? - Answer-Cdks During prophase, chromosomes recruit which enzyme? - Answer-condensin Chromosomes begin condensing at ________ until _______ phase - Answer- prophase until metaphase At which stage is chromatin maximally condensed? - Answer-Metaphase At what stage of mitosis does a spindle begin to form, and two pairs of centrioles move to opposing poles? - Answer-Prophase Characteristics of prophase: - Answer-1. Chromosomes begin condensing 2. DNA coils tighlty, resulting in short and thickened chromsomes 3. Spindle begins to form 4. Two pairs of centrioles moves to opposite poles 5. Microtubules begin polymerizing from duplicated centrosomes 6. Nuclear membrane breaks down HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ When does the nuclear membrane break down in mitosis? - Answer-At the end of prophase What phase are chromosomes maximally compact? - Answer-Metaphase Metaphase characteristics - Answer-chromosomes are lined at the cell's equator, and chromatids are separated by spindles attached to their centromeres When does fragmentation of the nuclear envelope into many small vesicles occur? - Answer-Prometaphase Spindle fibers extend from: - Answer-centrioles Chromosomes are attached to spindle fibers at their: - Answer-centromeres Kinetochore - Answer-proteins associated with teh centromere, to which the spindle attach Centrioles - Answer-Cell organelle that aids in cell division in animal cells only Kinetochore microtubules - Answer-Connects the centrosome with the kinetochore in the centromere region of the chromosome. Centrosome - Answer-A structure in animal cells containing centrioles from which the spindle fibers develop. At what phase do centromeres divide and release chromatids? - Answer-anaphasee During mitosis, each chromatid becomes: - Answer-an independent chromosome HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Mitosis preserves: - Answer-the homologous chromosome number homologous chromosomes - Answer-Chromosomes that have the same sequence of genes and the same structure True or false; only external factors can affect a cell's mitotic clock - Answer-false-- both internal and external factors How many divisions can a cell undergo before its telomeres are degraded? - Answer-50 After a crucial length of telomere DNA is lost, the cell: - Answer-may remain alive but in the G0 state, or it may die Critical legnth of telomere DNA is lost signals - Answer-mitosis to stop Mitogen - Answer-An extracellular signal molecule that stimulates cell proliferation. ATM - Answer-ataxia telangiectasia mutated ATR - Answer-ATM and RAD3-related Describe the phosphorylation cascade that occurs after DNA is damaged - Answer- 1. DNA Damage activates ATM/ATR, which is phosphorylated 2. ATM/ATR phosphorylate Chk2 3. Chk2 phosphorylates p53 4.p53 can either pause mitosis to repair damaged DNA, arrest the cell cycle by activating p21, or signal the cell to undergo apoptosis p21 inhibits which checkpoints? - Answer-G1-2/cdk and S/cdk HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Telomeres contain hundreds to thousands of repeats of a: - Answer-6-base DNA sequence How many bases off the ends of telomeres are lost after each cell division? - Answer-50-200 Which cells produce telomerase? - Answer-1. sperm 2. eggs 3. bone marrow 4. cancer cells telomerase - Answer-prevents shortening of telomeres, keeps cells continously dividing True or false; the rate of telomere shortening may also sense environmental stimuli - Answer-true blebs - Answer-Membranous lobes created as the cell membrane breaks up in apoptosis. Cancer can result from: (mitosis, apoptosis) - Answer-too much mitosis, or too little apoptosis Stem cells divide by: a.) Mitosis b.) Meiosis - Answer-mitosis Stem cells produce: - Answer-two daughter cells or a stem cell and a progenitor cell HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Progenitor cells - Answer-A cell that has lost the capacity for self renewal and is committed to the generation of a particular cell lineage True or false; both stem cells and progenitor cells have the capacity for self renewal - Answer-false-- progenitor cells do not have the capacity for self renewal Stem cells and progenitor cells are described in terms of their developmental potiental: - Answer-totipotent, pluripotent, and multipotent Totipotent - Answer-can give rise to every cell type Pluripotent - Answer-Able to give rise to multiple, but not all, cell types. Multipotent - Answer-cell with limited potential to develop into many types of differentiated cells True or false; many, if not all, of the organs in an adult human body have stem or progenitor cells - Answer-true Name an example of a stem cell - Answer-hematopoietic stem cell What is the stem cell source for an embryonic stem cell? - Answer-Inner cell mass of early embryo; somatic cell nuclear transfer into egg cell induced pluripotent stem cell source - Answer-Genes or other chemicals reprogram the somatic cell nucleus; no embryos are required "adult" stem cell source - Answer-somatic cells that normally function as stem cells from any stage of development; from fertilized ovum through elderly HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Crossing over - Answer-the exchange of genes between homologous chromosomes, resulting in a mixture of parental characteristics in offspring. When does crossing over occur? - Answer-prophase I True or false; crossing over occurs in hetergeneous chromosomes during prophase 1 - Answer-false-- it is homologous chromosomes Independent assortment - Answer-"the fate of a gene on one chromosome is not influenced by a gene on a different chromosome" What is the probability that a daughter cell is going to receive a maternal chromosome from the homologous pair? Paternal chromosome? - Answer-50%, 50% Genetic variation contributes to - Answer-evolution random fertilization - Answer-source of genetic variation caused by the unlimited number of possible sperm & egg combinations What are the different alignments caused by having 23 chromosomes - Answer- 2^23, or 8,388,608 Prophase Ii - Answer-Nuclear envelope fragments, the spindle forms, fibers attach to both chromosomes Metaphase II - Answer-chromosomes align along the equator Anaphase II - Answer-SISTER CHROMATIDS separate to opposite poles HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Telophase II - Answer-Nuclear envelopes assemble around two daughter nuclei, chromosomes decondense, spindle disappears, and cytokinesis divides cells Meiosis 1 separates (sister chromatids/homologous chromosomes), meiosis 2 separates (sister chromatids/homologous chromosomes) - Answer-homologous chromosomes, sister chromatids During prometaphase I, homologous pairs are held together at the: a.) centromere b.) chiasmata c.) Kinetochore d.) cohesin - Answer-b.) chiasmata During prometaphase I, microtubules attach to the FUSED: - Answer-kinetochores What separates homologous pairs during anaphase I? - Answer-microtubules attached to kinetochores True or false; sister chromatids remain attached during anaphase I - Answer-true During prometaphase II, microtubules attach to the INDIVIDUAL: - Answer- kinetochores Mitosis is used for: - Answer-growth, repair, and asexual reproduction Meoisis is used for - Answer-sexual reproduction, and producing new gene combinations Spermatogenesis - Answer-Formation of sperm Mitosis occurs in ______ cells - Answer-somatic HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Meiosis occurs in ____ cells - Answer-germline A male begins manufacturing sperm at: - Answer-puberty, and continues throughout life Spermatogonium - Answer-A diploid cell that can undergo mitosis to form more spermatogonium, and can also be triggered to undergo meiosis to form sperm. What is the stem cell of sperm? - Answer-spermatogonium After mitosis, spermatogonium produce: - Answer-Primary spermatocyte or stem cell (more sperm, self renewed) Primary spermatocyte - Answer-specialized cell that undergoes meiosis to ultimately form sperm A primary spermatocyte is (haploid/diploid) - Answer-diploid A primary spermatocyte undergoes (mitosis/meiosis( to form secondary spermatocytes - Answer-meiosis What are the path of cells from spermatogonium to sperm? - Answer- Spermatogonium (2n) Primary spermatocyte (2n) Secondary spermatocyte (1n) Spermatid (1n) sperm (1n) How many spermatids can be produced from a single spermatogonium? - Answer- 4 HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Paternal age effect usually affects: - Answer-fibroblast growth factor receptors (FGFR), or skeletal growth True or false; the age of the father has a greater impact on disabilities than maternal age - Answer-true Achondroplasia - Answer-short limbed dwarfism Crouzan syndrome - Answer-Premature fusion of skull bones in infancy, causing wide-spaced and bulging eyes, beaked nose, short upper lip, small upper jaw, and jutting lower jaw Multiple endocrine neoplasia 2 - Answer-cancers of thyroid, parathyroid, and adrenal glands Pfeiffer syndrome - Answer-premature fusion of skull bones in infancy, short and fused fingers and toes Thanatophoric dysplasia - Answer-severe short limbed dwarfism Meiosis ensures: - Answer-the correct number of chromosomes per cell is preserved during sexual reproduction Chromosomes consists primarily of: - Answer-DNA and protein How are chromosomes distinguished? - Answer-size and shape A centromere contains a repeat of ___ bp - Answer-171 p - Answer-short arm HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ q - Answer-long arm Heterochromatin - Answer-dark-stained region of chromosome, mostly non-coding sequences Heterchromatin is: a.) AT rich b.) GC rich c.) equal AT and GC - Answer-a.) Euchromatin - Answer-lighter staining, contains most protein encoding genes Euchromatin is: a.) AT rich b.) GC rich c.) equal AT and GC - Answer-GC rich Subtelomeres - Answer-the chromosome region between the centromere and telomeres Subtelomeres consists of ___ to ______ bases - Answer-8,000 to 300,000 bases Subtelomeres contain at least ____ protein-encoding genes - Answer-500 50% of the protein-encoding genes found in subtelomeres are multigene gamilies that include: - Answer-pseudogenes pseudogene - Answer-A DNA segment very similar to a real gene but which does not yield a functional product; a gene that has become inactivated in a particular species because of mutation. HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Near the telomeres - Answer-the repeats are similiar to the telomere sequence Karyotype - Answer-Number and morphology of chromosomes in cell nucleus Why are karyotypes performed on cells during mitotic metaphase? - Answer-This is when DNA is most coiled, enabling it to be visualized Chromosomes are numbered from: - Answer-largest to smallest What can a karyote do? - Answer-Show which genes are transmitted together, confirm clinical diagnosis, reveal effects of environmental toxins, clarify evolutionary relationships Morphological classifications by location of the centromere: - Answer-Telocentric, acrocentric, submetacentric, and metacentric Telocentric - Answer-centromere at end Which morphological classification of chromosomes are NOT present in humans? a.) telocentric b.) Acrocentric c.) submetacentric d.) metacentric - Answer-telocentric Acrocentric - Answer-centromere is found close to the ends In acrocentric chromosomes, the short arms encode: - Answer-rRNA Acrocentric chromosomes - Answer-13, 14, 15, 21, 22 Submetacentric - Answer-centromere slightly off center HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ c.) Ultrasound d.) None of the above - Answer-b.) Amniocentesis Cell-free fetal DNA testing is used to distinguish: a.) De novo from inherited mutations b.) Inborn errors in biochemicals c.) Fetal chromosomal abnormalities, like trisomy conditions d.) A and c e.) All of the above - Answer-d.) De novo, and chromosomal abnormalities Fetal cells enter the maternal circulation in up to ___% of pregnancies a.) 50 b.) 65 c.) 68 d.) 70 - Answer-70 True or false; female embryos can easily be differentiated from mother's cells - Answer-FALSE How are female embryos differentiated from mother cells? - Answer- Flouroescence-activated cell sorters How is maternal age related to the risk of conceiving an offspring with trisomy 21? - Answer-The risk of trisomy 21 rises exponentially with maternal age Original dyes used to stain chromosomes: a.) gave banding patterns unique to each chromosome b.) Syncronized banding patterns with the cell cycle c.) Only stained chromosomes a uniform color d. Are sexy - Answer-c.) uniform color HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Improved staining techniques have given banding patterns, and researchers have found that syncronizing the cell cycle of cultured cells revealed more bands per chromoosme How did researchers reveal more bands, even after improving their staining techniques? - Answer-They synchronized the cell cycle of cultured cells to staining FISH - Answer-Fluroescence in Situ hybridization Fluorescence in Situ hybridization - Answer-DNA probes labeled with fluorescing dye bind complementary DNA DNA probes are labeled with _____ in FISH - Answer-Fluorescent dye How many fluorescent dots would correspond to a trisomy 21? a.) 1 b. 2 c.) 3 d.) 4 - Answer-c.) 3 What test is used to detect the most common trisomies and XY anomalies - Answer-FISH (fluorescent in situ hybridization) FISH detects: - Answer-microdeletions or microduplications of about 10^6 base pairs Chromosome nomenclature - Answer-Chromosome #, Sex chromosome constitution, extra or missing chromosome, and chromosome rearrangements HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Chromosome bands are numbered according to _____ starting from the ______ to: - Answer-Chromosome bands are numbered according to landmarks starting from the centromere up the short arm or down the long arm: Chromosomal rearrangements are described by: - Answer-noting the rearrangement and indicating the breakpoint(s) Describe the karyotype of a female with a deletion of the short arm on chromosome 4 with a breakpoint at band p15 - Answer-46,XX,del(4)(p15) Derivative chromosome - Answer-generated by mutliple abberations in a single chromosome or rearrangement involving two or more chromosomes Marker chromosome - Answer-when a chromosome cannot be identified Ideogram - Answer-A schematic chromosome map Indicates chromosome arms (p or q) and delineates major regions and subregions by numbers Gene CGTR is located on the chromosomal location: - Answer-7q31.2 Giemsa stain - Answer-a process of staining bacteria for identification Atypical chromosomes account for at least ____% of spontaneous abortions, and ____ of newborn fatalities - Answer-50%, 0.65% Is it possible that atypical chromosomes could account for more than 0.65% of newborn deaths? - Answer-yes, because not all deceased newborns are reported/tested for chromosomal abnormalities HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ A male born with an extra X and extra Y chromosome (nomenclature) - Answer- 48, XXYY 46, XY, t(7;9) (p21.1; q34.1) description - Answer-male with translocation between the short arm of chromosome 7 at band 21.1 and the long arm of chromosome 9 at band 34.1 46, XY, t(7;9) (p21.1; q34.1) is an example of: a.) polyploidy b.) aneuploidy c.) rearrangemnt - Answer-rearrangement, it is a translocation event 46, XY, del (7q) - Answer-Male missing part of the long arm of chromosome 7 46, XY, del (7q) a.) polyploidy b.) aneuploidy c.) rearrangemnt - Answer-rearrangement, deletion has occured Euploid - Answer-Normal chromosomal number Aneuploid - Answer-Cells with extra or missing chromosomes Mosaic - Answer-Individual with two chromosomally-distinct cell populations During mitosis, what event is largely responsible for chromosomal abnormalities? - Answer-Mitotic nondisjunction During meiosis I, what is largely responsible for chromosomal abnormalities? - Answer-Copies of both homologs in one gamete HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ During meiosis II, what is largely responsible for chromosomal abnormalities? - Answer-Both sister chromatids in one gamete Nondisjunction - Answer-a chromosome pair fails to separate at anaphase in either the 1st or second meiotic division Aneuploidy is a result of: - Answer-nondisjunction Aneuploidy is a result of errors in: a.) mitosis b.) meiosis c.) both mitosis and meiosis - Answer-c.) both Most autosomal aneuploids during embryonic or fetal develop result in: - Answer- abortion Which trisomies are seen frequently? - Answer-Chromosomes 21, 18, and 13 Down syndrome karyotype - Answer-47, XY, +21 Turner syndrome karyotype - Answer-45, X, i(X), q(10) Turner syndrome has an _____ on it's X chromsome - Answer-isochromosome isochromosome - Answer-a chromosome that has lost one of its arms and replaced it with an exact copy of the other arm Mosaicism occurs during - Answer-somatic cell division Trisomy 13 - Answer-Patau syndrome HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Trisomy 18 - Answer-Edwards syndrome Patau syndrome features - Answer-Major feature: eye fusion Cleft lip and palate, severe central nervous system anomaly, polydactyly, renal abnormalities Edward's syndrome features: - Answer-Low birth weight, central nervous system abnormalities, heart defects Down syndrome features: - Answer-hypotonia, characteristic facial features, developmental delay and heart defects Turner syndrome features - Answer-short stature, webbing at back of neck, infertility, impaired hearing, some individiuals who are mosiacs may have children True or false; turner syndrome is related to a mother's age - Answer-false __% of fetuses with turner syndrome die in utero - Answer-99% One in ______ female births results in turner syndrome - Answer-2500 The origin of the monosomy in turner syndrom is: - Answer-following fertilization, where the zygote undergoes mitosis and there is an X chromosome loss Klinefelter syndrome phenotype - Answer-Incomplete sexual development, "not retarded," long limbs, large hands and feet, some breast development What syndrome is the most common cause of male infertilitiy? - Answer- Klinefelter syndrome (XXY) HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ What are the two events that can cause Turner Syndrome? (Hint: Look at eggs and sperm) - Answer-1. 22 chr in egg, 23 chr in sperm (contains X) --> fuses together in zygote, 45 chr total, with X donated by sperm --> missing X from egg, but you wouldn't know bc the sperm donates an X. 2. Egg has 23 chromosomes (donates X) Sperm has 23 chromosomes (donates X) - -> normal zygote --> Somatic mosiac occurs, resulting in some cells with X chromosome loss Turner syndrome can be the result of mosacism (t/f) - Answer-true! True or false; turner's syndrome is not related to a mother's age - Answer-true Chromosome structure abnormalities (hint: there are 7) - Answer- Deletions,Duplications insertion, translocations, inversions, acentric, dicentric, ring structure True or false; a defective structure will always result in a phenotype - Answer- false, even with these abnormalities, the chromosome can be balanced IF the normal amount of genetic material persists Cry break - Answer-LET'S TRY TO GET TO ACCEPTANCE!! Chromosomes are balanced if: - Answer-the normal amount of genetic materials persists Which abnormal chromosome structures COULD be balanced? (select all that apply) a.) Deletions b.) Inversions c.) duplications HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ d.) Translocations - Answer-inversions and translocations... Deletions and duplications are Not Hi. If you notice any weird phrasing/questions that don't make sense, 90% of the quizlet was made after midnight, and I was broaching a unique human condition called - Answer-delirium Structural abnormalities result from: - Answer-chromosomal breakage followed by loss or rearrangement of material Structural abnormalities involve: a.) single chromosomes b.) Exchances between chromosomes c.) a and b - Answer-c.) The more genes involved in a chromosome structural abnormalitiy - Answer-the more severe the syndrome Deletions are caused by: a.) crossover between a chromosome that has pericentric inversion and its non- inverted homolog b.) translocation event c.) Breakage and reunion of fragments in the same chromosome, by the wrong orientation d.) Chromosome loses telomeres and the ends fuse, forming a ring e.)a and b - Answer-e. translocation are caused by: a.) crossover between a chromosome that has pericentric inversion and its non- inverted homolog b. Exchange between non-homologous chromosomes HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ c.) Breakage and reunion of fragments in the same chromosome, by the wrong orientation d.) Chromosome loses telomeres and the ends fuse, forming a ring e.)a and b - Answer-b.) inversions are caused by: a.) crossover between a chromosome that has pericentric inversion and its non- inverted homolog b. Exchange between non-homologous chromosomes c.) Breakage and reunion of fragments in the same chromosome, by the wrong orientation d.) Chromosome loses telomeres and the ends fuse, forming a ring e.)a and b - Answer-c.) Dicentric and acentric are caused by: a.) crossover between a chromosome that has paracentric inversion and its non- inverted homolog b. Exchange between non-homologous chromosomes c.) Breakage and reunion of fragments in the same chromosome, by the wrong orientation d.) Chromosome loses telomeres and the ends fuse, forming a ring e.)a and b - Answer-a Ring structures are caused by: a.) crossover between a chromosome that has pericentric inversion and its non- inverted homolog b. Exchange between non-homologous chromosomes c.) Breakage and reunion of fragments in the same chromosome, by the wrong orientation d.) Chromosome loses telomeres and the ends fuse, forming a ring e.)a and b - Answer-d.) HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ In reciprocal translocations: a.) No material is gained or lost b.) are likely asymptomatic c.) can be inherited d.) all of the above - Answer-d.) When translocations are symptomatic, what likely occurs? - Answer-spontaneous abortion due to unbalanced chromosome Alternate segregation - Answer-A pattern of chromosome segregation that can occur following reciprocal balanced translocation that leads to the production of viable gametes. Adjacent I and II segregation = - Answer-Unbalanced, nonviable Types of translocation - Answer-A.) reciprocal b.) robertsonian Robersonian translocation - Answer-two non-homologous acrocentric chromosomes break the short arm, while the sticky arms on teh long arms join. Short arms are lost or included elsewhere in hte genome Robertsonian translocation carrier gene number - Answer-45 Down syndrome can result from: - Answer-Nondisjunction event or robertsonian translocation 5% of Down syndrome results from a _________ translocation between chromosomes __ and __ - Answer-robertsonian, 21 and 14 HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ How might you deduce that someone has robertsonian Down syndrome, without ever looking at a karyotype? - Answer-If there seems to be a recurring pattern of down syndrome in the family How many balanced karyotypes exist from robertsonian translocation? - Answer-2 out of 6 (1/3) Is robertsonian translocation related to age? - Answer-no Carriers with robertsonian translocation (stat) - Answer-1 in 1000, or 1/20 cases True or false; robertsonian translocation has a higher recurence risk within a fam - Answer-true Which of the following is false regarding inversions? a.) Can be inherited from carrier parent, de novo, or ovary/testis is a mosiac b.) harms health in 50% of cases c.) only large inversions are usually detected d.) genes can be disrupted at the breakage point - Answer-b.) is FALSE --? harms health in 5-10% of cases Paracentric inversion's inverted region: (hint: what about the centromere?) - Answer-does NOT include centromere The most frequent paracentric inversions are located on which chromosomes? - Answer-3, 7, 14 The segment of a paracentric inversion lies entirely: - Answer-Within an arm of the chromosome HUMAN GENETICS (BMD 350) EXAM I TEST BANK Latest Verified Review 2024 Practice Questions and Answers for Exam Preparation, 100% Correct with Explanations, Highly Recommended, Download to Score A+ Why aren't dicentric chromatids viab;e? - Answer-The two centromeres are pulled to opposite sides of the cells, resulting in a broken chromosome with either extra or missing segments What occurs to an acentric chromatid during mitosis? - Answer-the fragment is lost becayse a centromere is required for cell division Pericentric inversion includes: (hint: what about the centromere?) - Answer-the centromere Where are breakpoints located in pericentric inversion? - Answer-on opposite sides of the inversion Pericentric inversion can cause infertility, more commonly in which sex? - Answer-males Pericentric inversions cause: (hint: think chromosomal number, possible polyploidy... with a twist) - Answer-partial trisomoes and monosomies Isochromosome - Answer-loss of one arm and duplication of the other Which isochromosome is most common? - Answer-Two long arms of X chromosome 46, X, i(Xq) - Answer-A female with one normal X chromosome and an isochromosome of the long arm of the X chromosome Isochromosomes are formed when? - Answer-Centromeres divide along the wrong plane during meiosis