Commonly used genetic terms Flashcards

1
Q

allele

A

one member of a pair or series of genes, one from mother one from father (specific variation of gene)

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2
Q

homozygous

A

if member of gene pair are identical (same gene product)

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3
Q

heterozygous

A

having 2 diff alleles of a particular gene

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4
Q

genotype

A

genetic composition of a person

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5
Q

phenotype

A

is the observable expression of a genotype in terms of physical and biochemical traits

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6
Q

dominant trait

A

trait is phenotypically seen in the heterozygote

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7
Q

recessive traint

A

trait is phenotypically seen ONLY in homozygote

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8
Q

codominance

A

when both alleles of a gene pair are phenotypically seen in the heterozygote

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9
Q

example of codominance

A

blood group inheritance (AO, BO, AB)

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10
Q

polymorphism

A

one or more normal allele (alternate forms) at same locus (specific location) within a gene pool
Normal variations in human gene that account for individual differences in physical traits behaviors and disease susceptibility (SNPs)

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11
Q

gene mutation

A

biochemical event such as a nucleotide change, deletion, or insertion that produces a new allele for a particular gene

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12
Q

reduced penetrance

A

when person inherits dominate mutant gene but fails to exhibit that associated phenotype

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13
Q

variable expressivity

A

autosomal dominate disorders can be epxressed differently in people who carry mutant gene

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14
Q

aneuploidy

A

having an abnormal number of chromosomes

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15
Q

monosomy

A

refers to the presence of only one member of a chromosome pair- defects associated with this are sever and often cause miscarriage

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16
Q

polysomy

A

presence of more than 2 chromosomes to a set occur when a germ cell (egg or sperm) containing more than 23 chromosomes is involved in conception