Genetic Disorders: Definitions and Classifications, Quizzes of Biology

Download Genetic Disorders: Definitions and Classifications and more Quizzes Biology in PDF only on Docsity! TERM 1 Defects in.....cause genetic disorders DEFINITION 1 mnemonic: CSM-GSM chromosomes single gene multifactorial germline somatic cells mitochondria genes TERM 2 Some autosomal recessive diseases DEFINITION 2 mnemonic: GAP T-Shirt Galactosemia Albinism Phenylketonuria Tay-Sach's Disease TERM 3 Galactosemia DEFINITION 3 autosomal recessive cannot metabolize galactose high galactose levels in urine leads to liver disease and cirrhosis TERM 4 Albinism DEFINITION 4 autosomal recessive absence of enzyme for melanin production lack of pigmentation, photophobia TERM 5 Phenylketonuria DEFINITION 5 Autosomal recessive non-functional phenylalanine hydroxylase mental retardation due to build-up of Phe TERM 6 Tay-Sach's Disease DEFINITION 6 autosomal recessive excessive storing of ganglioside in lysosomes of neuronal cells causes deterioration of physical and mental abilities affects those aged 6 months to 4 years TERM 7 Familial Hypercholesterolemia DEFINITION 7 autosomal dominant LDL receptor defect premature athersclerosis TERM 8 Hemophillia A DEFINITION 8 X linked recessive missing clotting factor 8 fibrin-deficient clots excessive post-traumatic bleeding TERM 9 Congenetial Disease DEFINITION 9 present at birth not necessarily genetically determined may be caused by inter uterine environment TERM 10 Autosomal Recessive DEFINITION 10 Both parents must carry at least one defective gene for the offspring to display or carry the trait Two copies of the gene = affected One copy of the gene = carrier affects males and females equally not seen in every generation TERM 21 Trisomy DEFINITION 21 three copies, instead of the normal two, of a particular chromosome. TERM 22 Triploidy DEFINITION 22 three copies of every chromosome; and extra set of chromosomes(fatal abnormality) TERM 23 Penetrance DEFINITION 23 the proportion of individuals carrying a particular variation of a gene that also express the associated trait (phenotype).the tendency of a genotypic abnormality to cause phenotypic abnormality TERM 24 Genomic Imprinting DEFINITION 24 phenomenon by which certain genes are expressed in a parent-of-origin-specific manner.ex. Angelman's Syndrome vs. Prader-Willi DiseaseAngelman's syndrome from deletion in chrom 15 from MOTHERPrader-Willi Disease from deletion in chrom 15 from FATHER TERM 25 Down's Syndrome DEFINITION 25 Trisomy of chrom 21 due to nondisjunction Mental retardation, some physical abnormalities Additional risks: heart defect, leukemia, life expectancy about 49 yrs TERM 26 Kleinfelters syndrome DEFINITION 26 when human males have an extra X chromosome. XXY due to nondisjunction tall stature, wide pelvis, hypogonadism Additional risks: risk of male breast cancer TERM 27 Chronic Myelocytic Leukemia DEFINITION 27 Parts of chromosomes 9 and 22 switch placesdue to translocation TERM 28 isochrome formation DEFINITION 28 when one arm of a chromosome is lost, and it is replaces by an exact copy of the other arm TERM 29 Ring Chromosome DEFINITION 29 a chromosome whose arms have fused together to form a ring TERM 30 Turner's syndrome DEFINITION 30 an XO female; only one X caused by ring chromosome formation physical abnormalities, gonadal dysfunction additional risks: heart disease, hypothyroidism, diabetes