A biotechnology company offers a direct-to-consumer test called the Carrier Status report that generates various calculations about an individual’s genetic risk for certain diseases. Write one paragraph that addresses the following two issues: Why would this be most useful for disorders following an autosomal recessive pattern of inheritance? Provide evidence from your textbook (e.g., Section 10.7, Inheritance Patterns in Humans). Explain how this information might be useful for people during their reproductive years.

A biotechnology company offers a direct-to-consumer test called the Carrier Status report that generates various calculations about an individual’s genetic risk for certain diseases. Write one paragraph that addresses the following two issues: Why would this be most useful for disorders following an autosomal recessive pattern of inheritance? Provide evidence from your textbook (e.g., Section 10.7, Inheritance Patterns in Humans). Explain how this information might be useful for people during their reproductive years.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter4: Pedigree Analysis In Human Genetics

Section: Chapter Questions

Problem 2QP: Pedigree Analysis Is a Basic Method in Human Genetics Pedigree analysis permits all of the following...

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Pedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. Would you want to know the results of the cancer, heart disease, and TSD tests if you were Sarah and Adam? Is it their responsibility as potential parents to gather this type of information before they decide to have a child?
Pedigree analysis is a fundamental tool for investigating whether or not a trait is following a Mendelian pattern of inheritance. It can also be used to help identify individuals within a family who may be at risk for the trait. Adam and Sarah, a young couple of Eastern European Jewish ancestry, went to a genetic counselor because they were planning a family and wanted to know what their chances were for having a child with a genetic condition. The genetic counselor took a detailed family history from both of them and discovered several traits in their respective families. Sarahs maternal family history is suggestive of an autosomal dominant pattern of cancer predisposition to breast and ovarian cancer because of the young ages at which her mother and grandmother were diagnosed with their cancers. If a mutant allele that predisposed to breast and ovarian cancer was inherited in Sarahs family, she, her sister, and any of her own future children could be at risk for inheriting this mutation. The counselor told her that genetic testing is available that may help determine if this mutant allele is present in her family members. Adams paternal family history has a very strong pattern of early onset heart disease. An autosomal dominant condition known as familial hypercholesterolemia may be responsible for the large number of deaths from heart disease. As with hereditary breast and ovarian cancer, genetic testing is available to see if Adam carries the mutant allele. Testing will give the couple more information about the chances that their children could inherit this mutation. Adam had a first cousin who died from Tay-Sachs disease (TSD), a fatal autosomal recessive condition most commonly found in people of Eastern European Jewish descent. Because TSD is a recessively inherited disorder, both of his cousins parents must have been heterozygous carriers of the mutant allele. If that is the case, Adams father could be a carrier as well. If Adams father carries the mutant TSD allele, it is possible that Adam inherited this mutation. Because Sarah is also of Eastern European Jewish ancestry, she could also be a carrier of the gene, even though no one in her family has been affected with TSD. If Adam and Sarah are both carriers, each of their children would have a 25% chance of being afflicted with TSD. A simple blood test performed on both Sarah and Adam could determine whether they are carriers of this mutation. If Sarah carries the mutant cancer allele and Adam carries the mutant heart disease allele, what is the chance that they would have a child who is free of both diseases? Are these good odds?
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?
The following pedigree shows the inheritance of Huntington’s disease, a fatal genetic disorder that causes neurodegeneration. Since signs and symptoms usually do not appear until adulthood, many who are carriers may not realize their risk of passing on the disease-causing allele. The following pedigree represents a family in which some people are affected by Huntington’s disease. Using just the information on this pedigree, is Huntington’s disease caused by a dominant allele or recessive alleles? What are the genotypes of the grandparents (I-1 and I-2)? What are the genotypes of the parents (II-6 and II-7)? If the parents above have another child, what is the chance that they will be affected by the Hungtington’s disease allele? What are the genotypes of the unaffected children (III-8, 9, 10)? What is the chance that the unaffected children above will pass on a Huntington’s disease allele to their children? What is the genotype of the affected child (III-11)? What is the chance…
Geneticists are concerned about three different genetic conditions present within their family. Achondroplasia is an autosomal dominant genetic disorder that results in short-limbed dwarfism. (A = achondroplasia allele; a = average height allele). Red-Green Color blindness is an X-linked recessive genetic disorder (Xc = color blindness allele; XC = normal color vision allele). The 7-year-old son has an autosomal recessive form of deafness. (h = deafness allele; H = normal hearing allele.) All three family members were karyotyped, and additional genetic testing was performed to determine the chromosomal location of the genes being studied. The figures below show the karyotypes of the mother and father with respect to the chromosomes containing the three genes mentioned above. Question: The couple’s 7-year-old son has all three of these genetic conditions (achondroplasia, color blindness and deafness). Taking into consideration the genotypes of his parents, what is the complete…
Individuals, such as Ryan Clark and Geno Atkins, heterozygous for the sickle cell allele show effects of the allele under some circumstances (refer to the linked article and Mendelian patterns of inheritance in your text). Explain in terms of gene expression. http://www.nfl.com/news/story/0ap3000000714754/article/coleman-unsure-on-denver-game-due-to-sickle-cell-trait
Create a hypothetical person and situation as a real life example to illustrate your position. Who is this person? How old is this person? What chromosomal abnormalities does this person have? How does genetic testing and counseling make this person’s life better or worse? Ultimately, should your hypothetical person seek genetic counseling?
For a recessive condition, two normal heterozygous individuals have children. What is the likelihood of their children being affected by this condition? What is the likelihood of their children being carriers without the condition? What is the likelihood of their asymptomatic children being carriers? Suppose that an individual with the condition has children with a heterozygous individual, what is the likelihood of their children being carriers?
Phenylketonuria (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?
Phenylketonuria (PKU) is a disease that results from a recessive gene.Suppose that two unaffected parents produce a child with PKU. a. What is the probability that a sperm from the father will contain the PKU allele?b. What is the probability that an egg from the mother will contain the PKU allele?c. What is the probability that their next child will have PKU?d. What is the probability that their next child will be heterozygous for the PKU gene?
A couple who are both heterozygous for an autosomal recessive mutation that is narrowly expressed and fully penetrant are planning on having three children. What is the probability that one their children will be normal (unaffected) and two children will have the recessive mutant phenotype? Show your work. Please answer this question using the Bayes’ Theorem
Marfan syndrome is a disease caused by a rare dominant allele of the fibrillin-1 gene. Fibrillin-1 is an important component of the extracellular matrix, and people with the disease-causing allele have abnormal connective tissue. An affected mother (Marta) and an unaffected father (Joe) have one unaffected daughter (Luisa - she does not exhibit any traits of the syndrome). If Luisa has a child with Nico (unaffected), what is the probability that her child will inherit Marfan syndrome? Select one: a. 50% b. 25% c. 100% d. 0% e. 75%