Genetic factors and disease/inheritance patterns Flashcards

1
Q

Genotype

A

genetic constitution of an individual

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2
Q

Phenotype

A

clinical appearance (results from interaction of environment and genotype)

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3
Q

Allele

A

one of several alternative forms of a gene at a specific locus

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4
Q

Locus

A

position of gene/DNA on genetic map

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5
Q

Polymorphism

A

frequent hereditary variations at a locus

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6
Q

Homozygous

A

both alleles are the same at a locus

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7
Q

Heterozygous

A

alleles are different at a locus

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8
Q

Hemizygous

A

genes carried on an unpaired chromosome

refers to a locus on an x chromosome in males

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9
Q

Autosomal dominant inheritance

A

only manifests in heterozygous state
affects males+females equally
affected individuals in multiple generations
transmission by individuals of both sexes to both sexes

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