Concept explainers
HOW DO WE KNOW?
In this chapter, we focused on a mode of inheritance referred to as quantitative genetics, as well as many of the statistical parameters utilized to study quantitative traits. Along the way, we found opportunities to consider the methods and reasoning by which geneticists acquired much of their understanding of quantitative genetics. From the explanations given in the chapter, what answers would you propose to the following fundamental questions:
(a) How can we ascertain the number of polygenes involved in the inheritance of a quantitative trait?
(b) What findings led geneticists to postulate the multiple-factor hypothesis that invoked the idea of additive alleles to explain inheritance patterns?
(c) How do we assess environmental factors to determine if they impact the
(d) How do we know that monozygotic twins are not identical genotypically as adults?
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Essentials of Genetics (9th Edition) - Standalone book
- 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 decide to have a child if the test results said that you carry the mutation for breast and ovarian cancer? The heart disease mutation? The TSD mutation? The heart disease and the mutant alleles?arrow_forwardPedigree 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?arrow_forwardPedigree 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?arrow_forward
- Craniofrontonasal syndrome (CFNS) is a birth defect in whichpremature fusion of the cranial sutures leads to abnormal head shape, widely spaced eyes, nasal clefts, and various other skeletal abnormalities. George Feldman and his colleagues looked at several families in which offspring had CFNS and recorded the results shown in the following table (G. J. Feldman. 1997. Human Molecular Genetics 6:1937–1941). Q. On the basis of these results, what is the most likely mode of inheritance for CFNS?arrow_forwardA study of three generations in a family of a male colleague of the authors indicated that many of the man's blood relatives had died of cardiovascular accidents and coronary heart disease. Others died of other causes but were affected by high blood pressure. What are the implications of this information for the man in question? b. What information and help might a genetic counselor provide?arrow_forwardDNA profiling has been used to verify pedigrees of valuable animals such as show dogs, racing greyhounds, and thoroughbred horses. However, the technology is much harder to apply in these cases than it is in forensic applications for humans. In particular, many more DNA markers must be examined in domesticated animals to stablish the identity or close familial relationship of two DNA samples. Why would you need to look at more polymorphic loci in these animals than you would in humans?arrow_forward
- In humans, the genetic disease cystic fibrosis is caused by a recessive allele (a). The normal (healthy) allele is dominant (A). What is the genotype of someone who has cystic fibrosis? What are the two different genotypes that a healthy person could have? If two people were both heterozygous for the cystic fibrosis gene, what fraction of their children would be likely to have this disease? Hint: Draw a Punnett square to figure it out.arrow_forwardConsider the following pedigree. Solid symbols represent individuals affected by the trait. Assume complete penetrance and non-variable expressivity. II 3 4 III 1 2 3 5 6 a) what is the mode of inheritance of this trait? b) Does the ratio of affected to unaffected offspring in generation III-1 to 1II-4 match the expected ratio for this mode of inheritance? Explain your answer in terms of the expected ratio versus the ratio observed. Give a reason for your answer. No mark is assigned for yes or no)arrow_forwardBelow is a pedigree of a human genetic disease in which solid color indicates affected individuals. Assume that the disease is caused by a gene that can have the alleles A or a. a) Based on this pedigree, what is the most likely mode of inheritance? b) What is/are the possible genotype/s of person 1? c) What is/are the possible genotype (s) of person 4 ? Explain your answers.arrow_forward
- Forward Genetics Analysis uses a variety of beneficial approaches to identify never before described For each of the following approaches or outcomes, briefly (maximum 2 sentences) discuss in your own words, their purpose in Forward Genetics Analysis. genes. a) Parental cross b) F1 X F1 crossarrow_forwarda.) What can you conclude about the location of the genetic determinants of R and S? b.) What other criteria can be used to determine if a certain trait follows the pattern shown in(a)?arrow_forwardBelow is a pedigree of a human blinding disease. Use this pedigree to answer the following questions. TO 14) If this is disease has an autosomal recessive inheritance pattern, what is the probability that individuals II-3 and II-4 have four more children and three of them are affected by the disease? a) 4.68% b) 1.17% c) 7.03% d) 42.18% e) 1.56%arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning