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 A, Problem 3P
A couple comes into your genetic counseling practice with a question about the chance a future child of theirs might have a genetic disease. Three or four men in the woman’s family, including her father, had a condition that might be genetic. Although her father is still alive, she has had little contact with him for much of her life and cannot describe or name the condition. Her partner is a healthy man whose family has no history indicating the presence of a genetic condition. To provide more information about this possible genetic condition for the couple, what is the first step you recommend?
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A couple enters your genetic counseling clinic for some family planning advice. The woman’s father was color blind, but her own vision is normal. The man has no family history of color blindness. Neither the man nor woman have any known history of hemophilia, but their first child (a boy) has hemophilia. They ask you to calculate the chance that their nextchild will be affected by one or both conditions. You remember from your genetics training that these are both X-linked recessive conditions and that they are closely linked: in fact, their genetic loci are separated by only 10cM! During the interview with this couple, you draw the following pedigree to represent their information. Given what you know, determine for this couple what chance they have of each of the following (in the table).
As a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. would you recommend generic testing for Susan and John?
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Chapter A Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. A - Match each statement (a-e) with the best answer...Ch. A - Go online to the Mendelian Index of Man (OMIM)...Ch. A - A.3 A couple comes into your genetic counseling...Ch. A - A man, J.B., has a sister with autosomal recessive...Ch. A - A.5 A woman, S.R., had a maternal grandfather with...Ch. A - A.6 A -year-old woman whose father had Huntington...
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- Imagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.Iarrow_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_forwardA couple comes to you, a genetics counselor, asking for you to explain to them their risk of having a child with cystic fibrosis. Cystic fibrosis is a recessive condition that impacts the lungs and the digestive system. The man, Julian, has a brother with the condition. He was tested for the gene, and he found out that he is a carrier (Ff), and his significant other, Gabby, is also a carrier (Ff). Use this information to answer the quesitons below. Identify the genotype of Julian. Homozygous recessive Homozygous dominat Heterozygousarrow_forward
- A woman knows that her mother is a carrier of Kartagener’s syndrome (an autosomal recessive disorder). The woman does not know if either she or her husband are carriers. The couple wants to have a child, but is worried about whether or not they could have a child with Kartagener’s syndrome. Should the couple seek the advice of a genetic counselor? In other words, is there a chance they could have an affected child? If there is a chance, please make sure your answer includes the specific parental genotypes necessary to make this possible.arrow_forwardIn 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 certain couple has six children – four boys (ages 2yr, 5yrs, 9yrs and 11yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of Duchenne Muscular Dystrophy (DMD). You are a geneticist and they come to you for advice. What would you tell them about the chances of their other children developing the disease?arrow_forward
- Two 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_forwardA 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…arrow_forwardPhenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?arrow_forward
- 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?arrow_forwardb) Following figure is showing the DNA fingerprint analysis on the one locus of a man with four children. Which lane contains the DNA of a father? Why did you select that lane? 1 234 5 A.arrow_forwardPLEASE ANSWER THE FOLLOWING LETTERS: a,b,c, and d Examine the pedigree of the McGraw family shown below. Certain individuals in this family are affected by a brain condition that makes them more susceptible to vertigo. As a genetic counselor, you interview the family and draw DNA samples. You discover that the condition is caused by a mutation that changes the sequence 5’GCATTC3’ to 5’GAATTC3’ introducing an EcoRI cut site. You decide to amplify a 1200bp fragment from the DNA that spans this mutation and then digest it with EcoRI. You run the results on a gel next to a marker that shows bands at 2000bp, 1200bp, 900bp, 800bp, and 400bp. Some individuals from the pedigree are identified on the gel.arrow_forward
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