Question

the diagram below shows the inheritance pattern of a rare dominant disease allele that is 100% penetrant, and a biallelic snp locus. the snp locus and the disease allele are linked. could this snp locus be the site of the mutation causing the disease?

Answer 1

Yes, the SNP locus could be the site of the mutation causing the disease.

Dominant Inheritance: A dominant allele only needs to be present in one copy (heterozygous) to express the disease. This means that if an individual inherits the disease allele from one parent, even if the other parent has two normal alleles, they will still develop the disease.

100% Penetrance: Penetrance refers to the percentage of individuals with a specific genotype who actually express the corresponding phenotype. In this case, 100% penetrance means that everyone who inherits the disease allele will develop the disease.

Linked Loci: When two genes are located close together on the same chromosome, they tend to be inherited together. This is because there is a lower chance of them being separated during meiosis (cell division). In this scenario,