BLG 400 Lecture Notes - Lecture 4: Proband, Color Blindness, Zygosity

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Cannot do controlled breeding experiments on humans so we have to use pedigrees. Pedigrees are diagrams/family trees of a family"s relevant genetic features over multiple generations. To see single gene inheritance, mendelian law of equal segregation must apply: the expected 3:1 and 1:1 ratios may not apply because humans don"t usually make a ton of children (small progeny sample size) Propositus- a member of a family who first comes to the attention of a geneticist (first one who has a specific disease or mutation in their genes) Several patterns of single gene inheritance can be revealed by pedigree analysis. Human autosomal traits are located on the non-sex chromosomes (chromosomes 1-22) Autosomal traits can be inherited as: autosomal dominant, autosomal recessive (autosomal recessive) Two key point to determine patterns in a pedigree that would reveal autosomal recessive inheritance: the disorder appears in the children of unaffected parents, the affected progeny include both males and females.

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