Lecture 5 - Genetic & environmental disease II Flashcards

1
Q

Genes =

A

hereditary elements

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2
Q

Difference between genotype and phenotype

A
Genotype = genetic makeup
Phenotype = physical characteristics
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3
Q

3 types of genetic defects

A

deletion of DNA, gain of DNA, mutation of DNA

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4
Q

What are the types of autosomal chromosomal germline defects?

A

Numerical, structural, translocation

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5
Q

Germline defects =

A

all cells affected -> heritable

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6
Q

Penetrance =

A

the frequency with which a dominant or homozygous recessive gene shows itself in individuals of a population

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