Interpreting a pedigree As a genetic counselor, you might need to interpret the

Question

Interpreting a pedigree As a genetic counselor, you might need to interpret the likelihood of a couple passing on a disease based on a pedigree. Consider the example below, tracking the family history of hypercholesterolemia, high cholesterol, based on a reduced number of LDL receptors

Is this disease autosomal dominant or recessive? Explain your reasoning based on this pedigree.

Explanation / Answer

generation 1: three affected, both male and female (1 male and 2 female) generation 2: one affected female and one affected male both the generations shown the disease occurence. If father/mother has disease, AHA or AHa and mother/father do not possess disease AA or aa or Aa Then the F1 offspring shows.......AHA x AA-------->AHA, AHA, AA, AA ( two normal and two diseased) AHa x AA-------->AHA, AHA, Aa, Aa ( two normal and two diseased) Hypercholesterolemia is a autosomal dominant disease. Single gene is enough to show the disease. Both females and males get affected equally, because it is a autosomal disease. The disease gets transmitted directly from parent to child. The disease do not skip generations. If one of the parent is having this affected gene and another parent is normal, about 50% gets affected and the remaining 50% are normal.

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