Multiple choice

The most significant limitation of molecular analysis of the HFE gene for screening for hemochromatosis in individuals of northern European descent is

  1. non-penetrance

  2. allelic heterogeneity

  3. locus heterogeneity

  4. variable expression
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A Correct answer
Explanation

A significant proportion of individuals who are homozygous for an HFE mutation will not develop signs or symptoms of iron overload. There are only two HFE mutations that account for most affected individuals, and HFE mutation accounts for the majority of cases of hemochromatosis in individuals of northern European descent.

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