Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 17, Problem 16P
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As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?
A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?
A genetic counsellor is working with a couple who have just had a child who has a debilitating autosomal recessive form of a disease
termed epidemolysis bullosa (which causes severe external and internal skin fragility resulting in blistering etc). Neither parent has
epidemolysis bullosa, nor does anyone in their families. What should the counsellor say to this couple?
OA. "Because no one in either of your families has epidemolysis bullosa, you are not likely to have another baby with epidemolysis
bullosa. You can safely have another child."
OB. "Because you have had one child with epidemolysis bullosa, you must each carry the allele. Any child you have has a 50%
chance of having the disease."
OC. "Because you have had one child with epidemolysis bullosa, you must
each carry the allele. Any child you have has a 25% chance of having the disease."
OD. "Because you have had one child with epidemolysis bullosa, you must both carry the allele. However, since the chance of having
an affected…
Chapter 17 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 17 - 17.1 Reciprocal crosses of experimental animals or...Ch. 17 - 17.2 How are some of the characteristics of the...Ch. 17 - 17.3 The human mitochondrial genome encodes...Ch. 17 - What is the evidence that transfer of DNA from the...Ch. 17 - Draw a graph depicting the relative amounts of...Ch. 17 - Prob. 6PCh. 17 - 17.7 What is the evidence that the ancient...Ch. 17 - 17.8 Outline the steps required for a gene...Ch. 17 - 17.9 Consider the phylogenetic tree presented in...Ch. 17 - You are a genetic counselor, and several members...
Ch. 17 - A mutation in Arabidopsis immutans results in the...Ch. 17 - What type or types of inheritance are consistent...Ch. 17 - You have isolated (1) a streptomycin-resistant...Ch. 17 - You have isolated two petite mutants, pet1 and...Ch. 17 - 17.15 Consider this human pedigree for a vision...Ch. 17 - A 50- year - old man has been diagnosed with MELAS...Ch. 17 - 17.17 The first person in a family to exhibit...Ch. 17 - Prob. 18PCh. 17 - 17.19 What is the most likely mode of inheritance...Ch. 17 - 17.20 In , the Russian Tsar Nicholaswas deposed,...Ch. 17 - 17.21 The dodo bird (Raphus cucullatus) lived on...Ch. 17 - Cytoplasmic male sterility (CMS) in plants has...Ch. 17 - 17.23 Wolves and coyotes can interbreed in...Ch. 17 - Prob. 24PCh. 17 - Prob. 25PCh. 17 - Most large protein complexes in mitochondria and...Ch. 17 - As described in this chapter, mothers will pass on...
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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?arrow_forwardA 20-year-old woman comes to your genetic counselling center because she knows that Huntington disease occurs in members of her family. Huntington is an autosomal dominant disease that often becomes apparent around 35–40 years of age. Her paternal grandfather was afflicted, but so far her 41 year old father shows no symptoms. Her two great-great grandmothers on her father's side were healthy well into their 90s, and one of her great-great grandfathers died of unknown causes at 45. Testing for Huntington disease is extremely expensive, but she is concerned that she may fall victim to this disease and wants to plan her life accordingly. After examining her pedigree you advise her to: not get tested because her father is only a carrier and it is very unlikely her mother is a carrier. not get tested because there is no possibility that she is homozygous. get tested because her father could be a carrier. not get tested because only males in her family get the disease. not get tested…arrow_forwardSix months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span. 1. What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple’s decision to have more children? 2. It has been…arrow_forward
- A proband female with an unidentified disease seeks the advice of a genetic counselor before starting a family. Based on the following data, the counselor constructs a pedigree encompassing three generations: (1) The maternal grandfather of the proband has the disease. (2) The mother of the proband is unaffected and is the youngest of five children, the three oldest being male. (3) The proband has an affected older sister, but the youngest siblings are unaffected twins (boy and girl). (4) All the individuals who have the disease have been revealed. Duplicate the counselors featarrow_forwardWhat is the underlying genetic defect that causes xeroderma pigmentosum?How can the symptoms of this disease be explained by the genetic defect?arrow_forwardMany genetic counselors will not provide presymptomatic genetic testing for Huntington disease to people below the age of 18. Why are there concerns about offering this and many other genetic tests to minors? What types of presymptomatic genetic testing might be appropriate for minors?arrow_forward
- 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 conclusionarrow_forwardEach of the four types of structural chromosomal mutations is illustrated below. Label each picture with the type of chromosomal mutation that has occurred.arrow_forwardTwo mothers give birth to sons at the same time at a busy urban hospital. The son of mother 1 is afflicted with hemophilia. Neither parent has the disease. Mother 2 has a normal son, despite the fact that the father has hemophilia. Several years later, couple 1 sues the hospital, claiming that these two newborns were swapped in the nursery following their birth. As a genetic counselor, you are called to testify. What information can you provide the jury concerning the allegation?arrow_forward
- A man and a woman have a child with cystic fibrosis. Neither parent has cystic fibrosis. How could this happen? a) Both parents carry the cystic fibrosis allele, and each passed that allele to their child. b) The child had a spontaneous mutation on both copies of their CFTR alleles, leading to cystic fibrosis. c) One parent gave the child two copies of the cystic fibrosis CFTR allele. c) One parent gave the child a wild type CFTR allele, and the other parent gave them a cystic fibrosis CFTR gene.arrow_forwardThe pedigree pictured is of an extended family where a large percentage of family members develop colon cancer at an early age. In this family, individuals either get colon cancer before the age of 16, or they don’t get it at all. a) Based on the information you have been given, what evidence, if any, suggests an inherited contribution to the development of this disease? b) You take a medical history of all 33 people in the pedigree and discover that a large percentage drink a special coffee on a daily basis, while others do not. The individuals who do not drink coffee are I-1, II-2, II-4, II-9, III-7, III-13, IV-1, and IV-3. Could drinking this special coffee play a role in colon cancer? Explain.arrow_forwardA genetics counselor, Nashaly Montez, notices an odd pattern in Devin’s pedigree, a propensity for cancer development in his family at a higher incidence in males compared to females. This suggests to Nashaly an X-linked recessive disorder that is not manifesting in females as frequently compared to males who only have one X chromosome. She brings this to the attention of Devin’s primary health care provider who has his client checked for common cancer-causing mutations. A mutant LOF Fox3 regulatory allele is found that has an early NONSENSE codon that prevents protein expression. This is unfortunate, since in its wildtype form the protein is normally tumor-suppressing. 1) Nashaly, the genetics counselor, is doing academic research on Fox 3 gene expression in a genetically engineered bacterial strain transfected with recombinant DNA. By exposing the bacterium to increased heat, she induces a mutation in the ribosome and not the gene. Transcripts can bind to the mutant ribosome…arrow_forward
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