Genetics Flashcards

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1
Q

Gene

A

Genetic Material (RNA or DNA) coding for a single gene product ( Peptide, rRNA, tRNA)

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2
Q

Locus

A

The chromosomal Location of a gene

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3
Q

Allele

A

One Variant of a gene. Eye color alleles will code for the same trait but one may code for brown and the other may code for blue

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4
Q

Homologous Chromosomes

A

Chromosomes that code for the same set of genes (but may have different alleles) one received from each parent

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5
Q

How many chromosomes in humans?

A

46 chromosomes, 23 pairs. 1 pair related to gender

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6
Q

Law of Segregation

A

Separation of alleles in haploid gametes. Mendel. We are diploid but they separate in your gametes

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7
Q

Law of Independent Assortment

A

Genes assort independently to the progeny. Linkage violates this

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8
Q

Complete Dominance

A

When a Heterozygote has the phenotype of 1 of the alleles (the dominant one)

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9
Q

incomplete dominance

A

phenotypes of progeny are blends of the parental phenotypes. Black person and White person will have Tan kids

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10
Q

Codominance

A

Both inherited alleles are completely expressed. Blood types ABO

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11
Q

Pleiotropism

A

When a gene has multiple phenotypes associated with its expression

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12
Q

polygenism

A

when multiple genes affect a trait. Opposite of Pleiotropism

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13
Q

Penetrance

A

Probability of an organism with a specific genotype will express a specific phenotype.

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14
Q

Expressivity

A

Term describing the variation of a phenotype for a specific genotype. (degree of yellowness, dark-light)

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15
Q

Epistasis

A

Occurs when the expression of a gene us dependent upon another gene. Gene for red hair dependent on gene for male pattern baldness. Can’t have red hair if you’re bald.

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16
Q

Which sex is responsible for determining sex of child

A

father. Can only get an X from mom, Can get either an X or Y from dad.

17
Q

Colorblindness

A

X-linked recessive. Usually only present in males

18
Q

Mitochondria

A

Have own DNA/ribosomes. All from Mother

19
Q

Turner’s Syndrome

A

1 sex chromosome X. Develops as female, results from nondisjunction.

20
Q

Kleinfelter’s syndrome

A

3 sex chromosomes. XXY. Male. nondisjunction

21
Q

Point Mutations

A

Substitution, insertion, deletion. Change of single nucleotide.

22
Q

Missense Mutation

A

Point mutation leading to a codon coding for a different amino acid (substitution). Could be deleterious or not. If you change out one non polar AA for another non polar one it’s ok. If you swap it with a charged AA it could be bad. 3rd base of codon not a big deal.

23
Q

nonsense mutation

A

point mutation leading to a stop codon

24
Q

frameshift mutation

A

insertion or deletion leading to a change in the reading frame of a gene. Add one or remove one nucleotide. Causes major changes, almost always deleterious.