Mendelian Genetics Flashcards

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1
Q

Test Cross

A

Cross an unknown genotype with a known homozygous recessive to determine the unknown genotype

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2
Q

Backcross

A

Crossing an hybrid with a parent or same make up as parent

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3
Q

Dihybrid cross

A

crossing two organisms with 2 genes of interest

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4
Q

A particular organism is both female and carries an Xx genotype with parents of Xx and xx genotypes. What is the likelihood of this?

A

This question can be approached by using a Punnett Square. A typical cross between an Xx and an xx individual yields a 50% chance of any particular offspring organism being Xx (while the remaining 50% corresponds to xx offspring). However, in humans, only 50% of offspring are female, while the other 50% are male. For this reason, the probability of having a particular child being both female and Xx is (0.5)(0.5) = 0.25, or 25%.

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5
Q

An orchid breeder crosses two types of orchids, one that is tall with a petite bloom and one that is short with a large bloom, with the goal of obtaining a tall orchid with a large bloom. The first cross yields all short flowers with petite blooms. What is the expected yield of tall orchids with large blooms if bred from the first generation?

A

The first cross yields only short flowers with petite blooms, indicating that these are the dominant traits. The parent flower that was tall with petite blooms must have been homozygous recessive for height and homozygous dominant for bloom size. The parent flower that was short with large blooms must have been homozygous dominant for height and homozygous recessive for bloom size. All of the first generation flowers are heterozygotes for both traits, so if you were to cross two of these progeny, you could expect a result that follows normal Mendelian ratios for a dihybrid cross: 9:3:3:1. Here, the “1” represents the 1/16, or 6.25%, that will display both recessive traits, tall orchids with large blooms, which is this orchid breeder’s goal.

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6
Q

The ABO bloodtyping antigen is known to have blood cells with type A, B, AB, or O types. This pattern of dominance is known as…

A

Codominance, one does not mask the other

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7
Q

Snap dragon flowers can be either red, white, or pink. The red is homozygous dominant while the white is homozygous recessive. Pink is heterozygous. What kind of dominance is this?

A

Incomplete dominance

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8
Q

Penetrance

A

Percent of individuals with a given genotype who display the associated phenotype.

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9
Q

Women with the BRCA1 gene have an 80% likelihood of developing breast cancer. This likelihood is referred to as…

A

Penetrance

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10
Q

Expressivity

A

Severity of a phenotype

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11
Q

Congestive heart failure is shown to have a genetic basis but individuals with it show varied severity. THis is attributed to…

A

Expressivity

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12
Q

What is the difference between penetrance and expressivity

A

Penetrance is a yes or no, Expressivity is how much

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13
Q

True or False: in pedigrees, circles refer to females, squares are used to refer to males, and shading reflects individuals with the phenotype in question

A

True

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14
Q

The carrier frequency for cystic fibrosis, an autosomal recessive disorder, in the Ashkenazi Jewish population is 1 out of every 24 individuals. A baby born to a couple from this demographic is tested for this mutation. A family history reveals that the mother’s father was afflicted with cystic fibrosis. What is the approximate probability that the father is a carrier and the child will also be a carrier of this disease?

A

Since the mother’s father expresses the autosomal recessive trait, he must have two copies of the mutation and will pass one on to his daughter, making her an obligate carrier. The husband has a 1/24 chance of also being a heterozygote. If both parents are carriers, there is a 50% chance that the child will be one as well (along with a 25% chance that the child will have cystic fibrosis, and a 25% probability that the child will be homozygous dominant). Since we want the probability of the father being a carrier AND the child being a carrier, multiply (1/24)(1/2) = 1/48, which is closest to choice C.

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15
Q

Law of segregation

A

allel pairs segregate randomly into gametes

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16
Q

Law of independent assortment

A

separate traits are independently inherited. When they are on different chromosomes this law holds true

17
Q

Law of dominance

A

it is what it sounds like

18
Q

When is the law of independent assortment iffy

A

linked inheritance and crossing over (genetic recombination)

19
Q

Recombination frequency

A

The likelihood of recombination between two alleles/genes on a chromosome. Formation of chiasmata

20
Q

Centimorgan

A

A centimorgan is the unit of measure for recombination frequency with 1 centimorgan corresponding to 1% change in recombination frequency

21
Q

True or False: genes with a 50% or more recombination frequency are unlinked or located on different chromosomes

A

true

22
Q

What is an exception to the law of segregation?

A

Mendel’s first law (the law of segregation) does not apply in nondisjunction cases (the incorrect partition of chromosomes in meiosis). In nondisjunction, gametes may incorrectly gain or lose a chromosome copy. This changes the chromosome number in the gamete.

23
Q

When is the law of independent assortment broken?

A

Gene linkage violates the law of independent assortment (Mendel’s second law). Gene linkage occurs when two genes are located on the same chromosome. Such genes are “linked” and have a higher likelihood of assorting together into a particular gamete, than genes located on different chromosomes.

24
Q

Of 2000 total offspring in a particular cross, 180 are recombinants. The genes in question are known to be linked. In units of centimorgans, what distance would you expect to separate these two genes on the chromosome on which they are located?

A

First, calculate the recombination frequency:

(180 recombinants)/(2000 total offspring) = 9/100 = 9%

Each percent of a particular recombination frequency is measured as one centimorgan of distance along a chromosome, making our answer 9 cM.

25
Q

A man with blonde hair, blue eyes, and fair skin has a daughter with a woman with dark hair, brown eyes, and dark skin. (Assume that hair, eye, and skin color are each dependent on a single gene.) Based on their differences in these three traits, how many possible phenotypic combinations are possible for their child?

A

With no information regarding dominance or recessivity, all potential allelic combinations must be taken into account. With three genes each with two alleles, use 2^3 to find that there are eight different combinations.

26
Q

A family has a history of inherited female sterility. A woman who is concerned about whether or not she has this phenotype is concerned about the trait’s:

A

Penetrance describes whether an allele’s phenotype will or will not be expressed. If a woman is concerned about whether she will or will not have a trait, she is concerned about the trait’s penetrance.

27
Q

Scientists measure the distance between gene loci A and B on a germ cell chromosome to be 15 centimorgans. After meiosis, what will be the percent frequency of each kind of gamete that is produced?

A

The frequency with which recombination of two genes occurs is equal to the distance between the two genes in centimorgans.

Therefore, the genes A and B will recombine 15% of the time. If 15% of the time 2 chromosomes recombine, 30% of all gametes produced will have altered or unexpected combinations of alleles. In this case, AB and ab chromosomes recombined such that 15% of all gametes receive an Ab chromosome, 15% receive an aB chromosome, and 70% receive a non-recombined chromosome.