Medical genetics and cancer - Detection of disease-causing alleles via haplotypes

4 important questions on Medical genetics and cancer - Detection of disease-causing alleles via haplotypes

What is a haplotype?

Haplotype is the contraction of haploid genotype, it refers to the linkage of alleles or molecular markers along a single chromosome.

What is a founder?

A founder is an individual who lived many generations ago and was the person in which the disease-causing allele originated.

What is linkage disequilibrium?

Linkage disequilibrium is the phenomenon that exists when alleles and molecular markers are associated with each other at a frequency that is significantly higher than expected by random chance.
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Explain the connection between the founder and the G8-C marker.

In this pedigree, the original mutation that caused the Huntington allele occurred in a germ-line cell or gamete of the founder such that the Huntington allele was linked to the G9-C marker.

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