Chapter 6 Study Guide Flashcards

1
Q

What kind of trait would be expected to affect more females than males?

autosomal recessive

autosomal dominant

X-linked recessive

X-linked dominant

Y-linked

A

x-linked dominant

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2
Q

What kind of trait would be expected to affect more females than males?

autosomal recessive

autosomal dominant

X-linked recessive

X-linked dominant

Y-linked

A

monozygotic twins

Monozygotic twins share 100% of their genes and should show the highest concordance for traits that are genetically influenced.

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3
Q

A(n) ___________ is a picture of a complete set of chromosomes from an individual.

X-ray

pedigree

karyotype

proband

concordance

A

karyotype

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4
Q

Distinguishing autosomal dominant inheritance from X-linked dominant inheritance in pedigree analysis is often difficult. Which of the following observations would be characteristic of autosomal dominant, but not of X-linked dominant inheritance?

An affected man has a normal son and an affected daughter.

An affected woman has both an affected daughter and an affected son.

An affected woman has both a normal daughter and an affected son.

An affected woman has an affected daughter and a normal daughter.

An affected man has an affected son and an affected daughter.

A

An affected man has an affected son and an affected daughter.

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5
Q

In adoption studies of genetic influence on traits, which assumption is most commonly violated?

Adopted persons have no more genes in common with their adoptive parents than do two randomly chosen persons.

Adopted persons have 50% of their genes in common with each of their biological parents.

Adopted persons share the same environment as their adoptive parents.

The environments of biological and adoptive families are not more alike than would be expected by chance.

None of the above examples represents a situation where an assumption is commonly violated.

A

The environments of biological and adoptive families are not more alike than would be expected by chance.

Adoption agencies carefully choose adoptive parents and may select a family that resembles the biological family.

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6
Q

Karyotypes are commonly used to detect _____________ abnormalities.

X-linked dominant

X-linked recessive

autosomal recessive

chromosome

autosomal dominant

A

chromosomes

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7
Q

Two children, a brother and his sister, are born with an autosomal recessive condition. They are believed to be the first two individuals in their extended family to have this disorder. What is the most likely genotypes for their parents?

The father is likely heterozygous for the disorder, and the mother is likely homozygous for the disorder.

The mother is likely heterozygous for the disorder, and the father is likely homozygous for the disorder.

The mother is likely homozygous for the normal genotype, and the father is likely heterozygous for the disorder.

The father is likely homozygous for the normal genotype, and the mother is likely heterozygous for the disorder.

Both parents are likely heterozygous for the disorder.

A

Both parents are likely heterozygous for the disorder.

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8
Q

Studies have been done on monozygotic twins that were separated soon after birth and raised in separate homes, often in different parts of the country. Many of these twins did not know that they had a twin until after they reached adulthood. For certain traits concordance values were found to be similar in these twins to values for monozygotic twins raised together. What can be concluded about these traits?

Genetic factors play little or no role in the expression of these traits.

Concordance values will also likely be similar for these traits in dizygotic twins raised apart.

Genetic factors and environmental factors likely play about equal roles in the expression of these traits.

Environmental factors that occurred after separation of the twins seemed to play little role in the expression of these traits.

These traits are likely to be caused by a small number of genes.

A

Environmental factors that occurred after separation of the twins seemed to play little role in the expression of these traits.

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9
Q

Amniocentesis and chorionic villus sampling are often used in __________ genetic testing.

newborn

proband

presymptomatic

prenatal

concordance

A

prenatal

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10
Q

Color blindness is inherited in humans as an X-linked recessive trait. What offspring are expected from a mating between a heterozygous woman and a phenotypically normal man?

None of the sons and all of the daughters will be color blind.

Half of the sons and none of the daughters will be color blind.

All of the sons and none of the daughters will be color blind.

None of the offspring are expected to be affected, but half of the daughters will be heterozygous for the color blind allele.

Half of the sons and half of the daughters will be color blind.

A

Half of the sons and none of the daughters will be color blind.

It passes from unaffected female to affected male to unaffected female.

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11
Q

Which of the following disorders is currently most commonly tested for in newborn screening programs?

hemophilia A

Tay-Sachs disease

phenylketonuria

asthma

epilepsy

A

Phenylketonuria

DNA analysis of cells obtained by amniocentesis or chorionic villus sampling

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12
Q

What can be concluded about a trait that shows a concordance of 100% in monozygotic twins and 50% in dizygotic twins?
is genetic.

About 25% of the basis of the trait is genetic, while 75% of the basis is environmental.

It is caused exclusively or almost exclusively by environmental factors.

About 50% of the basis of the trait is genetic, while 50% of the basis is environmental.

It is caused exclusively or almost exclusively by genetic factors.

About 25% of the basis of the trait is environmental, while 75% of the basis

A

It is caused exclusively or almost exclusively by genetic factors.

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13
Q

Which substance found in high concentrations in the blood of a pregnant woman might indicate that the fetus has a neural tube defect?

phenylalanine

alpha-fetoprotein

human chorionic gonadotropin

pregnancy-associated plasma protein

None of the above is correct.

A

alpha-fetoprotein

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14
Q

Which type of twins are the result of a single egg fertilized by a single sperm?

dizygotic

monozygotic

fraternal

identical

both monozygotic and identical are correct

A

both monozygotic and identical are correct

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15
Q

Which was the most important consideration in choosing genetic conditions for mandatory newborn screening?

the availability of heterozygote screening among adults so that the appropriate newborns to be tested can be identified

availability of effective treatments and early interventions

cost of the genetic test

severity of symptoms and associated medical costs

frequency of occurrence

A

availability of effective treatments and early interventions

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16
Q

Direct-to-consumer genetic tests have been of concern to public health officials because ________.

they can provide information about an individual’s genotype

they often involve DNA analysis, and an individual will have to develop the laboratory skills to do this analysis

they sometimes require that a blood sample be given

they can provide information about an individual’s ancestry

the results may be difficult to interpret without the involvement of appropriate genetic counseling

A

the results may be difficult to interpret without the involvement of appropriate genetic counseling

17
Q

Newborns are generally screened for genetic diseases ________.

when a close relative is known to be affected

that are irreversible or untreatable disorders

that are fatal by one year of age

that are treatable or preventable

when heterozygous parents are affected

A

that are treatable or preventable

18
Q

Fraternal=__zygotic

19
Q

Identical=___zygotic

A

Monozygotic

20
Q

Even if geneticists could control human genetic crosses, the average waiting time to eventually collect F2 data from parental crosses would be about ____ years.

40

20

1 to 2

5

100

21
Q

A four-year old boy and his two-year old brother share what proportion of their genes (alleles) compared to a set of male monozygotic twins?

Both the brothers and the twins share 1/2 of their genes.

The brothers share 1/2 of their genes, while the twins presumably have all (100%) identical genes.

The brothers share 1/8 of their genes, while the twins share 1/4 of their genes.

Both the brothers and the twins share 1/4 of their genes.

The boys share 1/4 of their genes, while the monozygotic twins share 1/2 of their genes.

A

The brothers share 1/2 of their genes, while the twins presumably have all (100%) identical genes.

22
Q

If both members of a twin pair exhibit a trait of interest, the twins are said to be

concordant.

monozygotic.

fetal.

dizygotic.

discordant.

A

concordant

23
Q

Interpreting many genetic tests, even with profession medical care provided, is often difficult because of which of the following?

All of the above make interpretation difficult.

the inability of many genetic tests to detect all the pathogenic mutations at a gene locus and to distinguish them from harmless mutations at the same locus.

influence of environmental factors that affect some complex conditions

presence of multiple mutations causing the same condition

incomplete penetrance for some pathogenic mutations

A

All of the above make interpretation difficult.

24
Q

True or False? Y-linked traits are neither dominant nor recessive.

False

True

25
Which of the following is one of the assumptions that underlie the use of adoption studies in genetics? Adopted children continue to have some interaction with their biological parents after their adoption. The adoptive parents and the biological parents share at least one pair of grandparents. The trait being studied is likely inherited as an autosomal recessive condition. The environments of the biological and adoptive parents are independent. All of the above are valid assumptions.
The environments of the biological and adoptive parents are independent.
26
Tay-Sachs disease is not one of the disorders that are tested for in newborn screening programs. What is a major reason for not including Tay-Sachs disease among the group of disorders tested for in newborn screening programs? Early detection does not allow for an effective treatment for this disorder. It is not a serious enough disorder to warrant testing. Tay-Sachs disease is one of the conditions identified through presymptomatic testing so newborn screening is not necessary. Tay-Sachs disease is an autosomal recessive disorder and these are not detectable in newborn screening programs. It does not affect individuals until middle age so early detection is not important.
Early detection does not allow for an effective treatment for this disorder.
27
A pictorial representation of a family history which geneticists use to study human inheritance is _____. a proband a chromagram a pedigree a screening diagram a testcross
a pedigree
28
For a medical disorder, the concordance rate for monozygotic twins is about 55%, while it is 6% for dizygotic twins. What is the most reasonable conclusion that can be made from these data about the disorder? It is mainly caused by environmental factors with almost no genetic basis. It is mainly caused by genetic factors with almost no environmental input. It is inherited as a simple autosomal dominant trait. It is both caused by significant environmental factors and significant genetic factors. It is inherited as a simple autosomal recessive trait.
It is both caused by significant environmental factors and significant genetic factors. The difference in concordance values indicates that there is some genetic basis while the monozygotic value of 55%, which is less than 100%, indicates a significant amount of environmental basis also.
29
On average, dizygotic twins have about what percentage of their genes in common?
50%
30
Which term is not used to facilitate the study of human genetics? controlled crosses pedigrees adoption studies twin studies
controlled classes
31
Which of the statements about X‑linked recessive traits is false? Males are more commonly affected than females. Affected individuals often have phenotypically normal parents. Affected females almost always have an affected father. They often skip generations. They can be passed from father to son.
They can be passed from father to son
32
A male with a rare autosomal dominant trait marries a phenotypically normal woman. What proportion of their children should show the trait? one‑fourth one‑half three‑fourths all none
One-half
33
If a man exhibits a Y‑linked trait, what proportion of his sons should also be affected? three‑fourths all one‑fourth one‑half none
All
34
Which of the statements cannot occur with X‑linked dominant inheritance for a rare trait? An affected woman can have a normal daughter. An affected man can have a normal son. An affected man can pass on the trait to his daughter. An affected man can pass on the trait to his son. An affected woman can pass on the trait to both sons and daughters.
An affected man can pass on the trait to his son.
35
Which of the statements is true? Dizygotic twins usually look more alike than do monozygotic twins. The tendency to produce monozygotic twins often runs in families and is influenced by genetic factors, whereas genetic factors seem to have no impact on the occurrence of dizygotic twins. Dizygotic twins must be of the same gender, but monozygotic twins can be of different genders. Monozygotic twins develop from one egg fertilized by two sperm, whereas dizygotic twins develop from two eggs fertilized by one sperm. Dizygotic twins, on average, have 50% of their genes in common, whereas monozygotic twins have 100% of their genes in common.
Dizygotic twins, on average, have 50% of their genes in common, whereas monozygotic twins have 100% of their genes in common.
36
What is the term that refers to a pair of twins where one twin has the trait under consideration and the other twin does not? discordant concordant consanguine dizygotic proband
discordant
37
Assume that the concordance value for a particular trait is 85% for both monozygotic and dizygotic twins. What can be concluded about this trait? It is likely caused almost exclusively by environmental factors. It is caused by environmental factors in dizygotic twins but by genetic factors in monozygotic twins. It is caused by both genetic factors and environmental factors. It is likely caused almost exclusively by genetic factors. It is caused by genetic factors in dizygotic twins but by environmental factors in monozygotic twins.
It is likely caused almost exclusively by environmental factors.