Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
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Chapter 11, Problem 34P
Approximately 3% of the population carries a mutant allele at the CFTR gene responsible for the recessive disease cystic fibrosis. A genetic counselor is examining a family in which both parents are known to be carriers for a CFTR mutation. Their first child was born with the disease, and the parents have come to the counselor to assess whether the new fetus inside the mother’s womb is also diseased, is a carrier, or is homozygous wild type at the CF locus. DNA samples from each family member and the fetus are tested by PCR and gel electrophoresis for an SSR marker within one of the CFTR gene’s introns. The following results are obtained:
| a. | What is the probability that the child who will develop from this fetus will exhibit the disease? |
| b. | When this child grows up, what is the probability that any one of her own children will be afflicted with the disease? |
| c. | The cystic fibrosis gene displays extensive allelic heterogeneity: More than 1500 different mutations of the CFTR gene have been shown to be associated with cystic fibrosis worldwide. With this fact in mind, why might human geneticists choose to test the fetus in the indirect manner described in this problem rather than focusing directly on the mutations that actually caused the disease in the first child? |
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In man, muscular dystrophy is a condition in which the muscles waste away during early life and may result in a shorter life expectancy. It is due to a sex-linked, recessive gene. A certain couple has five children – three boys (ages 1yr, 3yrs, and 10yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of this disease. You are their family physician and they come to you for advice. What would you tell them about the chances of their other children developing the disease?
Duchenne muscular dystrophy is an X-linked, recessive disorder in which muscles waste away early in life, resulting in death in the teens or twenties. A man and woman in their late thirties have five children—three boys (ages 1, 3, and 10 years) and two girls (ages 5 and 7 years). The oldest, boy shows symptoms of the disease. What are the probabilities that their other children will develop the disease?
Give only typing answer with explanation and conclusion
A SNP marker is found linked to the cystic fibrosis gene. Cystic fibrosis is an autosomal recessive disease. A couple plans to have children together
and both are carriers for the cystic fibrosis gene but do not have the disease themselves. They are both A1/A2 at the SNP and the A2 allele is linked
with the allele causing cystic fibrosis. Assuming no crossing over between the SNP and the disease gene, what genotypes in the offspring could result
that would cause cystic fibrosis?
O A1-cf, A1 - cf
O A2-cf, A2 - cf
O A1 - CF, A1 - CF
O A1 - CF, A2 - cf
Chapter 11 Solutions
Genetics: From Genes to Genomes
Ch. 11 - Choose the phrase from the right column that best...Ch. 11 - Would you characterize the pattern of inheritance...Ch. 11 - Would you be more likely to find single nucleotide...Ch. 11 - A recent estimate of the rate of base...Ch. 11 - If you examine Fig. 11.5 closely, you will note...Ch. 11 - Approximately 50 million SNPs have thus far been...Ch. 11 - Mutations at simple sequence repeat SSR loci occur...Ch. 11 - Humans and gorillas last shared a common ancestor...Ch. 11 - In 2015, an international team of scientists...Ch. 11 - Using PCR, you want to amplify an approximately 1...
Ch. 11 - Prob. 11PCh. 11 - The previous problem raises several interesting...Ch. 11 - You want to make a recombinant DNA in which a PCR...Ch. 11 - You sequence a PCR product amplified from a...Ch. 11 - Prob. 15PCh. 11 - The trinucleotide repeat region of the Huntington...Ch. 11 - Sperm samples were taken from two men just...Ch. 11 - Prob. 18PCh. 11 - a. It is possible to perform DNA fingerprinting...Ch. 11 - On July 17, 1918, Tsar Nicholas II; his wife the...Ch. 11 - The figure that follows shows DNA fingerprint...Ch. 11 - Microarrays were used to determine the genotypes...Ch. 11 - A partial sequence of the wild-type HbA allele is...Ch. 11 - a. In Fig. 11.17b, PCR is performed to amplify...Ch. 11 - The following figure shows a partial microarray...Ch. 11 - Scientists were surprised to discover recently...Ch. 11 - The microarray shown in Problem 25 analyzes...Ch. 11 - The figure that follows shows the pedigree of a...Ch. 11 - One of the difficulties faced by human geneticists...Ch. 11 - Now consider a mating between consanguineous...Ch. 11 - The pedigree shown in Fig. 11.22 was crucial to...Ch. 11 - You have identified a SNP marker that in one large...Ch. 11 - The pedigrees indicated here were obtained with...Ch. 11 - Approximately 3 of the population carries a mutant...Ch. 11 - The drug ivacaftor has recently been developed to...Ch. 11 - In the high-throughput DNA sequencing protocol...Ch. 11 - A researcher sequences the whole exome of a...Ch. 11 - As explained in the text, the cause of many...Ch. 11 - Figure 11.26 portrayed the analysis of Miller...Ch. 11 - A research paper published in the summer of 2012...Ch. 11 - Table 11.2 and Fig. 11.27 together portray the...Ch. 11 - The human RefSeq of the entire first exon of a...Ch. 11 - Mutations in the HPRT1 gene in humans result in at...Ch. 11 - Prob. 44P
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