5P: Genotype to phenotype Flashcards

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1
Q

Penetrance (P)

A

The probability of a genotype that will manifest the trait

- P(%)= clinically affected individuals/obligate carriers x100

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2
Q

When is penetrance typically variable?

A

In dominant inheritance -> causes trait to skip generations

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3
Q

An example of an autosomal disorder with incomplete penetrance

A

Polydactylyl (many fingers or toes)

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4
Q

Multiple allelism

A

There are more than three alleles of a gene in a population

only two of them may be in one individual

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5
Q

Complex heterozygosity

A

An individual who has two different mutant alleles at a locus

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6
Q

Allelic heterogeneity

A

Different alleles may cause same (similar) disease

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7
Q

Epistasis

A
  • Describes how gene interactions can affect phenotypes

- When two different genes contribute to a single phenotype, those genes are said to be epistatic

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