Advanced Mendelian Genetics Flashcards

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1
Q

What are alleles

A

Different variants of the same genes

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2
Q

What is a locus

A

The region of DNA where alleles of a gene correspond to

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3
Q

Define dominant allele

A

Allele that produces an effect on the phenotype when present in either one or two copies (PP or Pp)

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4
Q

Define recessive allele

A

An allele that produces an effect on phenotype only when there is no dominant allele present (pp)

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5
Q

What is a wild type allele?

A

The strain that is most common in the wild

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6
Q

Why is it okay to have one mutant allele and one normal allele when the gene codes for an enzyme?

A

Because in most cases, having half the amount of enzyme is enough to allow reaction to proceed as normal

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7
Q

Define haplosufficient

A

When only one working copy is necessary/sufficient for normal expression of the gene’s function.

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8
Q

Is the functional or non-functional (mutant) allele dominant in haplosufficiency?

A

The functional gene is the dominant one

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9
Q

Which allele is dominant in haploinsufficency?

A

The mutant allele is dominant

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10
Q

What will the phenotype of a heterozygous gene look like in haploinsufficency

A

Mutant phenotype (unlike haplosufficiency where one working allele would have been enough to produce normal phenotype)

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