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Chapter 25: Problem 16

Describe the two assumptions that underlie the identification of disease- causing alleles via haplotypes.

Short Answer

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The two assumptions that underlie the identification of disease-causing alleles via haplotypes are: 1) a specific haplotype is associated with a disease, this is based on the concept of linkage disequilibrium, and 2) the disease-causing mutation occurred relatively recently in evolutionary history, which means the influence of recombination events is still low.

Step by step solution

01

Understanding Key Terms

Alleles are different versions of the same gene, and each individual inherits two alleles for each gene, one from each parent. However, different combinations of alleles (i.e., haplotypes) can result in different observable traits. Some haplotypes can make an individual more susceptible to certain diseases. Identifying disease-causing alleles involve exploring these haplotype variations to determine which specific allele (or alleles), when present, lead to a particular disease.
02

First Assumption

The first fundamental assumption behind identifying disease-causing alleles via haplotypes is that a specific haplotype is associated with a disease. This assumption is based on the concept of linkage disequilibrium, which denotes that specific combinations of alleles at two or more loci appear together more or less often than what would be expected by random chance if the loci were independent. If one allele of a haplotype is associated with a disease, it's often assumed that everyone with that haplotype has the risk of developing the disease.
03

Second Assumption

The second assumption is that the disease-causing mutation occurred relatively recently in evolutionary history. This is because over many generations, recombination events can shuffle alleles between haplotypes, bringing disease-associated alleles into different haplotypes and breaking up the original disease-associated haplotype.

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