Bio 1100 Pedigrees & Mutations Vocab

How many copies of a mutant allele would you need to express a dominant autosomal disorder?

one copy

How many copies of a mutant allele would you need to express a recessive autosomal disorder?

2 copies

What does it mean to be a carrier?

You have the recessive allele for the disorder, but you are heterozygous so the recessive isn’t expressed, but you could still pass on that recessive allele to later generations

Why make a pedigree?

To track what traits (potentially lethal) you could pass on to your offspring and where you got your traits from

What do you look for first when filling in a pedigree with specific genotypes?

the recessive phenotypes because then you know that that person’s parents both have the recessive allele

If looking at a pedigree for single gene disorders what would heterozygous people be?

carriers of that disorder

Are disorders only caused by recessive alleles

No, dominant alleles can cause the disorder, so being recessive homozygous would not be a carrier or affected by the disorder, which is only possible if one of the parents has the disorder