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Is it possible that the characteristic in the pedigree below could be X-linked recessive? If so, what is the genotype of each individual? If not, explain why not, giving specific genotypes. Use alleles A and a. Is it possible that the characteristic in the pedigree below could be X-linked recessive? If so, what is the genotype of each individual? If not, explain why not, giving specific genotypes. Use alleles A and a.

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This form of prenatal testing is most commonly performed between the 15th week and 18th week of pregnancy.


A) chorionic villus sampling
B) preimplantation genetic analysis
C) amniocentesis
D) heterozygote screening
E) presymptomatic screening

F) None of the above
G) A) and E)

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In pedigree analysis, the proband is:


A) the individual having the trait or disorder from whom the pedigree is initiated.
B) the medical geneticist who analyzes the pedigree to find the mode of inheritance for the disorder.
C) the parents of the first child in the family to show the trait or disorder.
D) one of the grandparents or great grandparents who are in the first generation of the pedigree.
E) the most common software package that geneticists use to analyze pedigrees.

F) B) and C)
G) C) and E)

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Which statement is INCORRECT concerning an X-linked recessive trait in humans?


A) An affected man often has phenotypically normal parents.
B) All the sons of an affected woman will be expected to be affected.
C) An affected woman almost always has an affected mother.
D) An affected man usually has a mother who carries the recessive allele.
E) A phenotypically normal woman whose father was affected is likely to be heterozygous for the condition.

F) C) and E)
G) B) and D)

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Which of the following is NOT a characteristic of X-linked recessive traits in humans?


A) More males than females are affected.
B) Approximately one-half of the sons of a female carrier are affected.
C) They cannot be passed from father to son.
D) Phenotypically normal daughters of affected men are always carriers.
E) Affected daughters always have an affected mother.

F) C) and E)
G) B) and C)

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If the phenotype followed in Pedigree 3 is X-linked recessive, then what is the genotype of II-2? Assume no new mutations and complete penetrance. If the phenotype followed in Pedigree 3 is X-linked recessive, then what is the genotype of II-2? Assume no new mutations and complete penetrance.   A)  homozygous dominant B)  heterozygous C)  homozygous recessive D)  hemizygous dominant E)  hemizygous recessive


A) homozygous dominant
B) heterozygous
C) homozygous recessive
D) hemizygous dominant
E) hemizygous recessive

F) A) and B)
G) B) and C)

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This form of prenatal testing is most commonly performed between the 10th week and 12th week of pregnancy and involves the insertion of a soft plastic into the vagina to obtain cells.


A) chorionic villus sampling
B) preimplantation genetic analysis
C) amniocentesis
D) heterozygote screening
E) presymptomatic screening

F) None of the above
G) A) and E)

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Phenylketonuria (PKU) is an autosomal recessive condition that can lead to mental retardation. It is caused by an enzyme deficiency that interferes with phenylalanine metabolism, causing a by-product to accumulate to levels that are toxic to brain development. Intellectual disability due to PKU can be prevented by a special diet that strictly restricts intake of phenylalanine but the diet must be started soon after birth to be effective. Which of the following would be the MOST appropriate and cost-efficient way of identifying individuals who need the special diet?


A) heterozygote screening
B) newborn screening
C) presymptomatic testing
D) prenatal diagnosis
E) amniocentesis

F) C) and D)
G) C) and E)

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The pedigree below shows the segregation of an autosomal recessive trait. If III-3 and III-4 marry and have a child, what is the probability that this child will show the trait? The pedigree below shows the segregation of an autosomal recessive trait. If III-3 and III-4 marry and have a child, what is the probability that this child will show the trait?   A)  <sup>1</sup>/<sub>4</sub> B)  1/6 C)  1/8 D)  <sup>1</sup>/<sub>2</sub> E)  2/3


A) 1/4
B) 1/6
C) 1/8
D) 1/2
E) 2/3

F) C) and E)
G) B) and C)

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A trait is caused by a rare recessive autosomal allele with full penetrance. Practically all individuals with the trait result from matings between normal individuals. What would be the expected concordance values for monozygotic and dizygotic twins?


A) 100% for both types of twins
B) 100% for monozygotic twins and 50% for dizygotic twins
C) about 50% for both types of twins
D) 100% for monozygotic twins and 75% for dizygotic twins
E) 100% for monozygotic twins and 25% for dizygotic twins

F) A) and E)
G) A) and C)

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Most pedigrees showing the hypothetical human trait show the following characteristics: • Males and females are equally affected. • Two unaffected parents can have an affected child. • In families in which the parents are unaffected but the children are affected, one-fourth of the children are affected. What is the MOST likely mode of inheritance for this disorder?


A) autosomal recessive
B) autosomal dominant
C) X-linked recessive
D) X-linked dominant
E) Y-linked

F) A) and B)
G) C) and D)

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If the pedigree below is for an autosomal recessive characteristic, which individuals are definitely heterozygous? If the pedigree below is for an autosomal recessive characteristic, which individuals are definitely heterozygous?   A)  I-1, I-2, II-2, II-4, II-5 B)  I-1, I-2, I-4, III-1 C)  I-1, I-2, II-4, II-5, III-1 D)  II-2, II-4, II-5, II-3 E)  II-2, II-4, II-5, III-1


A) I-1, I-2, II-2, II-4, II-5
B) I-1, I-2, I-4, III-1
C) I-1, I-2, II-4, II-5, III-1
D) II-2, II-4, II-5, II-3
E) II-2, II-4, II-5, III-1

F) B) and E)
G) B) and D)

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Which of the following is NOT correctly identified as an advantage is using amniocentesis?


A) It can be used to detect chromosome abnormalities prenatally in the fetus.
B) In some cases, it can be used to obtain fetal DNA so that tests can be done to determine if the fetus may have a particular genetic disorder.
C) It can normally be done as early as the sixth week of pregnancy.
D) It has a somewhat lower risk of complications than chorionic villus sampling.
E) All of these are advantages with the use of amniocentesis.

F) B) and C)
G) A) and B)

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Explain what the following data say about the genetic and environmental influence on each characteristic. How did you interpret these data? (MZ = monozygotic twins and DZ = dizygotic twins.)  Concordance in  Trait  MZ  DZ  Right- or left-handedness 8075 Manic depression 8020\begin{array} { | l | c c } \hline & { \text { Concordance in } } \\\hline \text { Trait } & \text { MZ } & \text { DZ } \\\hline \text { Right- or left-handedness } & 80 & 75 \\\hline \text { Manic depression } & 80 & 20 \\\hline\end{array}


A) Handedness and manic depression both have a strong genetic basis and little or no environmental basis.
B) Handedness and manic depression are both strongly affected by environmental factors with little or no genetic basis.
C) Handedness and manic depression are strongly affected by both environmental factors and genetic factors.
D) Handedness is strongly affected by environmental factors with little or no genetic basis, while manic depression is significantly affected by genetic factors.
E) Handedness is significantly affected by both environmental and genetic factors, while manic depression is significantly affected by environmental factors with little genetic basis.

F) A) and B)
G) C) and D)

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(a) What is a direct-to-consumer genetic test? (b) What are some advantages of direct-to-consumer tests? (c) What are some disadvantages or problems associated with these tests? (d) Do you think states and/or the federal government should regulate direct-to-consumer genetic testing? Defend your position with facts and arguments.

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(a) A direct-to-consumer genetic test is...

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A trait is caused by a rare dominant autosomal allele with full penetrance. Practically all individuals with the trait are heterozygous and result from matings between affected and normal individuals. What would be the expected concordance values for monozygotic and dizygotic twins?


A) 100% for both types of twins
B) 100% for monozygotic twins and 90% for dizygotic twins
C) about 90% for both types of twins
D) 100% for monozygotic twins and 50% for dizygotic twins
E) 75% for monozygotic twins and 25% for dizygotic twins

F) A) and B)
G) A) and C)

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The pedigree below shows the segregation of an autosomal recessive trait in humans. Unless there is evidence to the contrary, assume that individuals who marry into the family do not carry the recessive allele. If IV-1 and IV-2 marry, what is the probability that their first child will have this trait? The pedigree below shows the segregation of an autosomal recessive trait in humans. Unless there is evidence to the contrary, assume that individuals who marry into the family do not carry the recessive allele. If IV-1 and IV-2 marry, what is the probability that their first child will have this trait?   A)  1/12 B)  1/16 C)  1/24 D)  1/36 E)  1/8


A) 1/12
B) 1/16
C) 1/24
D) 1/36
E) 1/8

F) None of the above
G) All of the above

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Imagine that a human characteristic is determined by genotype only, with no environmental influence. Based on the amount of shared genetic information in MZ (monozygotic) and DZ (dizygotic) twins, what would you expect the concordance values to be in these two sets of twins?


A) The concordance values would be near 100% for both types of twins.
B) The concordance values would be near 50% for both types of twins.
C) The concordance values should be close to 100% for MZ twins and a concordance value much less for DZ twins.
D) The concordance values should be close to 50% for MZ twins and about 25% for DZ twins.
E) The concordance values should be close to 25% for MZ twins and about 75% for DZ twins.

F) D) and E)
G) B) and E)

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Is it possible that the characteristic in the pedigree below could be X-linked dominant? If so, what is the genotype of each individual? If not, explain why not, giving specific genotypes. Use alleles B and b. Is it possible that the characteristic in the pedigree below could be X-linked dominant? If so, what is the genotype of each individual? If not, explain why not, giving specific genotypes. Use alleles B and b.

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The pedigree below shows the segregation of an autosomal dominant trait. If IV-1 marries IV-5, what is the probability that their first child will be affected? Assume that the homozygous mutant genotype is viable and has the same phenotype as the heterozygote. The pedigree below shows the segregation of an autosomal dominant trait. If IV-1 marries IV-5, what is the probability that their first child will be affected? Assume that the homozygous mutant genotype is viable and has the same phenotype as the heterozygote.   A)  1/4 B)  1/2 C)  3/4 D)  3/8 E)  1/8


A) 1/4
B) 1/2
C) 3/4
D) 3/8
E) 1/8

F) B) and D)
G) C) and D)

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