PATH 3000 Lecture Notes - Lecture 27: Cystic Fibrosis, Compound Heterozygosity, Prenatal Diagnosis
19 Apr 2020
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Path 3000 lecture 27 march 20, 2020 genetic and developmental diseases part ii. Outline: normal embryonic development, developmental malformations, genetic factors, exogenous teratogens, chromosomal abnormalities, single-gene disorders. Alleles: multifactorial inheritance, prenatal diagnosis, prematurity, birth injury, and sids, one of the alternative versions of a gene or dna sequence at a given locus. Dominant genes: dominant alleles (a) overshadow recessive ones (a, heterozygotes for (a) express the trait. Your alleles are different for a given locus/gene. Recessive genes: homozygotes for (a) express the trait, ex. Homozygous recessive for the cftr gene results in cystic fibrosis. A mutation in the cftr gene is inherited from dad but a different mutation in the cftr gene is also inherited from mom. Thus, the offspring inherited two different mutations, which is referred to as compound heterozygosity. Single gene defects: autosomes chromosomes 1-22. Sex chromosome linked genes genes found on the sex chromosome (x or y)
