01:119:115 Lecture Notes - Lecture 18: Gamete, Genomic Imprinting, Phenylketonuria
3 Apr 2016
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It is difficult to study genetic variation in humans i. ii. iii. Unethical: not a convenient organism for genetic studies. Studies of large, extended families i: medical attention to human genetic diseases iii. Dna sequencing - similarities and differences: pedigree analysis, pedigree - shows inheritance pattern i. Used by genetic counselors when a trait is controlled at a single locus (location) Females - circles ii: males - squares, recessively linked disorders a. Genetic disorder caused by an allele that causes a malfunctioning protein. Heterozygous is a normal phenotype, but a carrier i. ii. iii: most genetic diseases inherited as single-locus autosomal recessive trait v. Albinism (recessive) - lack of pigmentation in skin and hair: examples of human recessive disorders i. Cystic fibrosis - most common lethal genetic diseases in the us: 1/2500 affected of european descent, recessive allele - defective or absent chloride transport channels, symptoms - mucus buildup in internal organs ii.
