Genetic Disorders

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Last updated 5:13 PM on 5/21/26
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7 Terms

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What is an allele?

One of multiple alternative forms of the same gene

2
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What is homozygous?

Having two identical alleles for a gene

3
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What is heterozygous?

Having two different alleles for a gene

4
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What is hemizygous?

Having only one copy of a gene instead of two

  • Ex. Males for X-linked genes

5
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What is penetrance?

The proportion of individuals with a genotype who actually express the phenotype

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What is expressivity?

Variation in phenotype severity among individuals with the same genotype

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What is the difference between penetrance and expressivity?

Whether phenotype appears

Degree/Severity of phenotype