single gene inheritance Flashcards

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1
Q

What is Mendelian inheritance?

A

Mendelian inheritance refers to the inheritance of traits determined by a single gene, and it can occur in all diploid organisms. Model organisms include S. cerevisiae, Drosophila, and Mus musculus.

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2
Q

Why is it difficult to observe Mendelian inheritance of single genes in humans?

A

It is difficult because human family sizes are usually small, making it harder to track the inheritance of single-gene traits.

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3
Q

What is the phenotype in a pedigree related to single-gene inheritance?

A

In a pedigree, phenotypes are usually the presence or absence of a disorder. Genetic diseases tend to be rare.

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4
Q

What is a test cross, and why is it used?

A

A test cross is used to determine an unknown genotype by crossing the organism with a homozygous recessive individual. The resulting offspring are analyzed using a Punnett square.

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5
Q

What is an example of autosomal dominant inheritance?

A

Marfan syndrome is an example of autosomal dominant inheritance. It affects fibrous connective tissues in the skeleton, eyes, cardiovascular system, lungs, and nervous system. Affected individuals have a defect in the fibrillin gene on chromosome 15.

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6
Q

What are the signs of autosomal dominant inheritance in a pedigree?

A

Affected individuals appear in all generations.
Both sexes are affected.
Only one copy of the abnormal gene is required for the trait to be expressed.

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7
Q

What are the four model ways of single-gene inheritance?

A

Autosomal dominant.

Autosomal recessive.

Sex-linked dominant.

Sex-linked recessive.

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8
Q

What are the signs of autosomal recessive inheritance in a pedigree?

A

Most generations are unaffected.

Both sexes are affected.

Parents are heterozygous carriers.

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9
Q

: What does X-linked recessive inheritance look like in a Punnett square?

A

: In X-linked recessive inheritance, the trait is located on the X chromosome. A difference in male and female offspring in the F2 generation indicates X-linked inheritance.

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10
Q

What are the features of sex-linked dominant inheritance?

A

The trait appears in all generations.

Affected fathers pass the condition to all daughters.

Affected heterozygous mothers can pass the condition to both sons and daughters.

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11
Q

Why do males always express X-linked recessive traits?

A

: Males only have one X chromosome, so if they inherit the recessive trait, they will always display it since they lack a second X chromosome to potentially mask it.

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12
Q

What are the characteristics of sex-linked recessive inheritance?

A

The trait appears to skip generations.

Mostly males are affected.

Females can be heterozygous carriers.

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13
Q

genetic trait

A

a characteristic of an organism

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14
Q

phenotype

A

observable traits of an organism

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15
Q

allele

A

a variation of the same gene

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16
Q

dominant

A

determines appearance or characteristic

17
Q

recessive

A

not observed in heterozygotes

18
Q

homozygote

A

two identical alleles YY yy

19
Q

heterozygotes

A

two different alleles Yy

20
Q

genotype

A

alleles that an organism has

21
Q

wild type genes

A

most common allele , w+ or +

22
Q

mutant gene

A

heritable variants of wild type w- or -