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Exam 6: Pedigree Analysis, Applications, and Genetic Testing

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Question 41

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Describe at least two reasons why testing for a genetic condition might be advantageous.

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Testing for a genetic condition can be a...

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Question 42

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Below are concordance rates for five different human disorders studied in monozygotic (MZ) and dizygotic (DZ) twins. $\begin{array} { c l c } \hline & { \text { Concordance } } \\\text { Disorder } & \text { MZ } & \text { DZ } \\& & \\\hline \text { A } & 100 \% & 50 \% \\\text { B } & 17 \% & 16 \% \\\text { C } & 56 \% & 11 \% \\\text { D } & 100 \% & 25 \% \\\text { E } & 50 \% & 100 \%\end{array}$ One of the above disorders is in part caused by significant genetic effects. In addition to a significant genetic contribution toward the disorder, there are also significant environmental effects that contribute toward the disorder phenotype. To which of the above disorders would this description MOST likely apply?

A) A
B) B
C) C
D) D
E) E

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

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Question 43

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Which of the following are typical reasons why individuals or couples may seek genetic counseling? (Select all that apply.)

Which of the following is NOT a typical characteristic of human traits that follow an autosomal recessive inheritance pattern?

In an effort to identify the influence of genetic factors on both Type 1 diabetes and Type II diabetes, researchers calculated concordance rates for monozygotic twins. Concordance rates of 30-50% have been found for Type I diabetes with concordance rates of 80% for Type II. For both kinds of diabetes, dizygotic concordance rates were about 15%. What does this information suggest concerning the relative effect of genetic and environmental factors for each type of diabetes?

What is/are the possible inheritance pattern(s) for the characteristic in Pedigree 1? Assume no new mutations and complete penetrance.

Which of the following is NOT normally used to study the inheritance of human traits or disorders?

The pedigree below shows the sex-linked recessive inheritance of Nance-Horan syndrome, a rare Mendelian disorder in which affected persons have cataracts and abnormally shaped teeth. What is the probability that the first child of IV-6 and V-3 would have Nance-Horan syndrome?

Tony, who is not diseased, has a sister with cystic fibrosis (CF). Neither of his parents has CF. Tony is expecting a child with Tina. Tina's family history is unknown. Draw a pedigree that includes all of this information. Below each person in the pedigree, write his or her genotype or possible genotypes, using A for the normal CF allele and a for the disease-causing recessive allele.

Which term refers to mating between closely related people?

Assume that the concordance values for a particular disease are 63% for monozygotic twins and 36% for dizygotic twins. Which of the following are TRUE? (Select all that apply.)

Researchers studying genetic determination of childhood asthma noted 65% concordance for monozygotic twin pairs in which at least one twin has asthma and 37% concordance for dizygotic twin pairs in which at least one twin has asthma. a. Explain the meaning of 65% concordance for asthma in monozygotic twins. b. Interpret the difference in concordance for asthma between monozygotic and dizygotic twins. c. If genes do influence childhood asthma, how is that 35% of monozygotic twin pairs are discordant for asthma?

Lucy is 16 weeks pregnant and undergoes maternal serum screening to measure her maternal alpha fetoprotein levels (AFP) . Her AFP level is several times higher than normal levels. For which of the following disorders should Lucy be offered additional testing?

In one study with both monozygotic and dizygotic twins, the concordance value for a neurological disorder was 100% for monozygotic twins. Which of the following statements is CORRECT?

Could the characteristic followed in the pedigree below be caused by an autosomal dominant disease? Why or why not?

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

The American College of Medical Genetics recommends mandatory screening of newborn infants for 29 conditions, and many states have adopted this recommendation into law. a. Explain the benefits of mandatory newborn screening for medical conditions. b. Why might some people be concerned about or even opposed to mandatory screening of newborns? c. Do you support mandatory screening of newborn infants for genetic disorders? Defend your position with facts and arguments.

Juliet and Bob have two children, Jack and Norma. No one in this family is red-green color blind, although Juliet sometimes has difficulty passing the color-vision part of the driving test. Norma has a color-blind son with Tom, who is not color blind. Draw a pedigree that includes all of this information. Below each person in the pedigree, write his or her genotype for the red-green color blindness gene, using B for the normal allele and b for the color blindness allele.