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genetics exam 2 (quizzes)

front 1

Regions of human chromosomes 2 and 5 have been shown to exhibit segmental aneuploidy, meaning that parts of the chromosomes were deleted. If there are NO phenotypic consequences of these chromosomal deletions, this mutation was

back 1

happlosufficent

front 2

In mice, the ABC protein phosphorylates the PAC protein. A nonsense mutation occurs in the ABC gene and the protein is truncated. The protein no longer has sufficient function to phosphorylate the PAC gene. What mutation has occured?

back 2

amoprhic

front 3

RAS is a protein that is activated by the growth factor EGF. Active RAS binds to GTP, whereas inactive RAS is bound to GDP. A mutation in codon 12 of RAS is found in many human cancers because it results in a form of RAS that remains tightly bound to GTP, allowing cells to divide rapidly and uncontrollably. Which type of mutation likely results in this constitutively active RAS?

back 3

hypermorphic

front 4

If you were to cross a pure-breeding black cat with a pure-breeding white cat and you got 100% gray offspring, what type of inheritance would be demonstrated? Assume coat color is controlled by one gene with two alleles, B (black) and b (white).

back 4

incomplete dominance

front 5

Tay Sachs disease results in non-functioning enzymes. Phenotypically, carriers of this disease appear normal and can maintain daily functions. Enzymatically, carriers of Tay Sachs disease have a total enzymatic activity of 50% where those without the trait have 100% and those with the trait have 0%. Molecularly, there is an equal amount of diseased cells as normal cells in the body of a carrier. What type of dominance is displayed in these levels respectively?

back 5

Phenotype - complete, enzyme - incomplete, molecular - codominance

front 6

When you cross two heterozygous black dogs you would expect a ratio of ¾ black : ¼ white in their offspring. However, you find that you get a ratio of ⅔ black : ⅓ white, with equal numbers of males and females in both groups. What genetic inheritance pattern can explain these results?

back 6

The allele for black coats is dominantly lethal

front 7

Hereditary hemochromatosis (HH) is a genetic condition that causes "iron overload." Patients with severe forms of the disease must donate blood regularly to remove excess iron from their bloodstreams. Clinically, it is difficult to determine which HH patients will actually develop increased iron levels and the adverse symptoms associated with the disorder. Which type of inheritance pattern describes the inability to predict whether an individual with the HH allele will develop the disorder based on his or her genotype?

back 7

incomplete penetrance

front 8

Marfan syndrome is an autosomal dominant disorder associated with a mutation in collagen and resulting in skeletal, optical, and cardiovascular abnormalities. Each person with a dominant mutant allele expresses at least one of the symptoms, with varying degrees of severity. This is an example of

back 8

variable expressivity

front 9

Porphyria is an inherited or acquired disorder of the heme biosynthetic pathway that leads to the accumulation of the porphyrins (or their chemical precursors). Inherited cases of porphyria are manifested with a combination of seemingly unrelated symptoms, including mental disturbances and hallucinations, constipation, vomiting, muscle weakness, pain, and seizures. Which genetic term best describes this type of mutation?

back 9

pleiotropy

front 10

A scientist studying deer notices that the gene for antler production is on chromosome 2. However, antler production is ONLY found in males. This is an example of a

back 10

sex limited trait

front 11

In humans, male pattern baldness is dominant in males and recessive in females. The genotype for male pattern baldness also presents differently in each sex. If the gene for this is located on chromosome 17, this is an example of a

back 11

sex influenced traits

front 12

Red-Green color blindness is located on the X chromosome. This is an example of a

back 12

sex linked trait

front 13

In sweet pea, red flower color is controlled by two genes involved in the anthocyanin pathway, A and B. Both genes are required for expression, so that a recessive pair of alleles at either locus would result in a pink phenotype. If an AaBb plant were allowed to self-cross and you got only red and pink flowers, what dihybrid ratio would you expect in the offspring?

back 13

9:7

front 14

What type of gene interaction is present in a 9:7 ratio?

back 14

Complementary gene interaction

front 15

In sweet pea, red flower color is controlled by two genes involved in the anthocyanin pathway, A and B. Both genes are required for expression, so that a recessive pair of alleles at either locus would result in a pink phenotype. If an AaBb plant were allowed to self-cross and you got only red and pink flowers, what dihybrid ratio would you expect in the offspring?

back 15

12 white : 3 yellow : 1 green

front 16

In corn, you find that two different genes (R and B) both make purple pigment in the stalk of the plant. Thus, only when both alleles are mutated (rrbb) would the corn stalk be green instead of purple. When you cross two heterozygotes, you find a ratio of 15:1 of plants with purple stalks to plants with green stalks. What type of genetic interaction is this?

back 16

duplicate gene interaction

front 17

Mutation of several different genes can result in albinism. Suppose two parents both have albinism, but they have a child with normal pigmentation. What is the possible genetic explanation for this result?

back 17

Genetic complementation

front 18

Achondroplasia is an autosomal dominant lethal mutation. Two people with achondroplasia are expecting a child. What are the chances that their child does NOT have achondroplasia?

back 18

1/3

front 19

Given that black coats (B) are dominant to brown coats (b) and the pigmentation gene E is recessively epistatic to the gene for coat color, such that when a lab is ee it will be yellow, solve the following problem. A brown lab undergoes a test cross. The offspring from the cross are half brown labs and half yellow labs. What were the parent genotypes?

back 19

bbEe x bbee

front 20

In peas, green is completely dominant to yellow. A homozygous dominant (GG) green pea crossed with a homozygous recessive (gg) yellow pea. However, only 60% of the offspring are green as expected and the other 40% are yellow. Why is this?

back 20

incomplete penetrance

front 21

Sex linked traits are located on the sex chromosomes

back 21

false

front 22

Which of the following is an example of complementation?

back 22

True In a two gene cross, the two parents both show the mutant phenotype but all of the F1 generation shows the wild type

front 23

What is Pleiotropy?

back 23

One gene causes several DISTINCT phenotypes

front 24

What is Polygenic Inheritance?

back 24

Multiple genes combine to produce one phenotype

front 25

What is Variable Expressivity?

back 25

one genotype produces different phenotypes that exist on a spectrum

front 26

What is Incomplete penetrance?

back 26

Occurs when a percent of the population's genotype do not produce the expected phenotype for a trait

front 27

In which of these situations would you NOT use FISH analysis?

back 27

to visualize single nucleotide changes in DNA

front 28

Genetic Linkage is in direct opposition to Mendel's Law of Independent Assortment

back 28

true

front 29

Which r value below would represent the two closest genes on a chromosome?

back 29

1%

front 30

If two genes are not syntenic, which theta value and lod score combination is most likely?

back 30

0.5 and -10

front 31

A parental generation AABB x aabb crosses to make an F1 generation of AaBb. You preform a test cross to determine if there is any genetic linkage. You have 1000 offspring. 230 are Aabb, 245 are aaBb, 260 are AaBb, and 265 are aabb. Is there likely to be genetic linkage?

back 31

no

front 32

What is the recombination frequency in the above problem?

back 32

47.5%

front 33

Map units in linkage mapping correlate with a specific number of base pairs

back 33

false

front 34

Changes in a restriction enzyme site can be used as polymorphic markers?

back 34

true

front 35

What are these markers called in the above question?

back 35

RFLP

front 36

What genetic markers can be inherited together to form a haplotype?

back 36

SNPs

front 37

Which of these is NOT an indicator for referral to genetic counseling

back 37

exposure to carcinogens as an adult

front 38

Om is observing a genome sequence in a chromosome and notices it contains a paracentric inversion. If the original genetic sequence of the chromosome is UGO*TTHIS, what would be an example of this type of mutation? (* is the centromere)

back 38

UGO*TIHTS

front 39

Janeen notices that a chromosome contains a mutation but is not sure which kind. If the original genetic sequence of the chromosome is GENE*TICS and the mutated sequence is GEIT*ENCS, what type of mutation has occurred?

back 39

Pericentric inversion

front 40

Which of the following is NOT true about the nucleosome?

back 40

It contains 8 types of core histone proteins

front 41

Chromatin condensation plays a role in regulating gene expression

back 41

true

front 42

In a telocentric chromosome, what structure is missing?

back 42

the p arm

front 43

A gene is transcribed often during the life of a cell, and its region of the chromosome lightly stains with G-banding. What type of chromatin is this?

back 43

euchromatin

front 44

What types of gametes result from each type (meiosis I and meiosis II) of meiotic nondisjunction?

back 44

Meiosis I nondisjunction results in four normal diploid cells, whereas meiosis II nondisjunction results in four aneuploid cells.

front 45

Which of the following human genetic disorders is an example of a terminal chromosome deletion?

back 45

Cri-du-chat syndrome

front 46

Which type of chromosomal mutation can result in two normal chromosomes, one deletion chromosome, and one translocation chromosome?

back 46

unbalanced translocation

front 47

A gamete has experienced a chromosomal mutation, and the offspring exhibit a reduction in chromosome number but no loss of gene segments. Which type of chromosomal mutation has likely occurred?

back 47

Robertstonian translocation

front 48

In a given cell, the DNA shows a defect in the linker DNA, but the nucleosome structure is intact. Which histone protein has likely been mutated to cause this type of structural change?

back 48

H1

front 49

What gives chromosomes their shape?

back 49

non histone scaffolding proteins

front 50

Which mode of inheritance results in both alleles being detected equally in the heterozygous phenotype?

back 50

codominance

front 51

A mutation results in an enzyme that is partially active compared to the wild-type allele. This type of "leaky" mutation is classified as

back 51

hypomorphic

front 52

A mutation results in a gene product with a novel function that is not normally found in wild-type organisms. This type of mutation is known as

back 52

neomorphic

front 53

What type of allele is often detected as a distortion in segregation ratios, where one class of expected progeny is missing?

back 53

lethal allele

front 54

Many oncogenes result from mutations that cause excessive expression of a protein in cells where it is normally not expressed or is expressed at inappropriate times during development. This type of mutation can be described as

back 54

hypermorphic

front 55

Which mode of inheritance results in the phenotype of a heterozygote being indistinguishable from that of an organism homozygous for the dominant allele?

back 55

complete dominance

front 56

Which mode of inheritance produces heterozygotes with phenotypes that differ from either homozygote and might appear to be a blending of the two phenotypes?

back 56

incomplete dominance

front 57

A metabolic reaction requires 40 units of enzymatic activity to proceed. If a dominant allele D can generate 40 units of enzyme and a mutant allele d" generates 20 units of enzyme, what can be said of the dominant wild-type allele?

back 57

D is haplosufficient.

front 58

Loss-of-function mutations more likely to be recessive.

back 58

true

front 59

The four different human blood types are caused by how many different alleles?

back 59

three

front 60

People with the dominant mutant polydactyly allele can have extra digits on one or both of their hands. What is the genetic explanation for this observation?

back 60

variable expressivity

front 61

Most people with the dominant mutant polydactyly allele have extra digits but at least 25% have the normal number of digits. What is the genetic explanation for this observation?

back 61

incomplete penetrance

front 62

Gene interactions in which an allele of one gene modifies or prevents expression of alleles of another gene is known as

back 62

epistasis

front 63

King George III of England and other members of the royal family were afflicted with a series of strange, seemingly unrelated symptoms including abdominal pain, rapid pulse, convulsions, and insanity. It has been determined that he likely suffered from porphyria, caused by a mutation in a single allele. What is the genetic term describing the alteration of multiple, distinct traits of an organism by a mutation in a single gene?

back 63

pleiotropy

front 64

You are looking at the color of feathers in ducks and find that yellow ducks (Y) are dominant to green ducks (y). However, a second gene, H, controls whether the color will be expressed in the feathers. If the duck is hh, the duck will always be white, because the pigment does not go into feathers. What ratio of phenotypes would you expect following a dihybrid cross?

back 64

9:3:4

front 65

The alleles of linked genes tend to

back 65

segregate together during gamete production

front 66

What is the highest possible frequency of recombination between linked genes that can be generated by any type of crossover event?

back 66

50%

front 67

Which of the following will result in modifications to the expected Mendelian ratios?

back 67

Gene interaction, Incomplete dominance, Incomplete penetrance, Epistasis

front 68

Sex-limited traits are caused by genes that are on sex chromosomes.

back 68

false

front 69

For a gene with multiple alleles, what is the maximum number of alleles a diploid organism may have?

back 69

two

front 70

The alleles of linked genes tend to

back 70

segregate together during gamete production

front 71

Syntenic genes can assort independently when

back 71

they are far apart on a chromosome and crossing over occurs frequently between the genes

front 72

Genetic linkage leads to the production of a significantly greater than expected number of gametes containing chromosomes with

back 72

parental combinations of alleles

front 73

What is the highest possible frequency of recombination between linked genes that can be generated by any type of crossover event?

back 73

50%

front 74

Recombination frequency differs between males and females. Which sex has a higher rate of recombination, heterogametic (males) or homogametic (females)?

back 74

homogametic (females)

front 75

The 9:6:1 ratio seen in the dihybrid cross of summer squash indicates what genetic relationship between the two genes controlling fruit shape?

back 75

dominant gene interaction

front 76

A chromosome with a different combination of alleles than parental that is created by crossing over between homologous chromosomes is termed

back 76

recombinant chromosome

front 77

Alleles of linked genes usually segregate together during meiosis. When they don't, it is because crossing over has occurred between them.

back 77

true

front 78

5% recombination is equal to ________ map unit(s) (m.u.) or centimorgan(s) (cM) of distance between linked genes.

back 78

5

front 79

Instead of creating a gene map along a chromosome, ________ is a method of analysis that detects and locates the genes that, as a group, influence form or appearance.

back 79

genome-wide association studies (GWAS)

front 80

Which type of chromosome has no p arms?

back 80

telocentric

front 81

A region of a chromosome spanning the centromere is broken and reattached in the reverse direction. This is an example of which type of chromosomal defect?

back 81

pericentric inversion

front 82

The specific array of alleles making up a set of linked genes on a single chromosome is called a haplotype

back 82

true

front 83

Instead of creating a gene map along a chromosome, genome wide association studies (GWAS) is a method of analysis that detects and locates the genes that, as a group, influence form or appearance.

back 83

true

front 84

During gametogenesis, what percentage of gametes would be aneuploid if the nondisjunction event occurs during meiosis I?

back 84

100%

front 85

What is used to map genes in deleted chromosome regions by a method known as deletion mapping. It is a genetic phenomenon that occurs when a normally recessive allele is "unmasked" and expressed in the phenotype because the dominant allele on the homologous chromosome has been deleted.

back 85

Pseudodominance

front 86

Chromosomal translocation involves chromosome breakage and reattachment of the broken segment to a homologous chromosome.

back 86

false

front 87

What technique would you use to detect a target sequence in an intact chromosome using a labeled molecular probe?

back 87

fluorescent in situ hybridization (FISH)

front 88

Which of the following is FALSE regarding organization in an interphase nucleus?

back 88

Each chromosome occupies exactly the same region in all nuclei within an organism.

front 89

When nondisjunction occurs early in embryogenesis rather than gametogenesis, what would you expect in the resulting karyotype?

back 89

mosaicism