Generation All geneticists who study human inheritance use a standard set of symbols in pedigrees: • Roman numerals identify different generations 1 3 4 • Circles represent females; squares represent males • Open symbols (blue here) represent unaffected individuals; filled symbols (red here) represent affected individuals II • Numbers listed below the symbols identify individuals of a given generation 2 III 1 2 3 4 5 6 Female Male Unaffected Affected liieuel dliuiduel

Generation All geneticists who study human inheritance use a standard set of symbols in pedigrees: • Roman numerals identify different generations 1 3 4 • Circles represent females; squares represent males • Open symbols (blue here) represent unaffected individuals; filled symbols (red here) represent affected individuals II • Numbers listed below the symbols identify individuals of a given generation 2 III 1 2 3 4 5 6 Female Male Unaffected Affected liieuel dliuiduel

Name: Q1: Which two children in this pedigree have cystic ﬁbrosis? How do yo
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Description: Q1: Which two children in this pedigree have cystic ﬁbrosis? How do you know? Q2: Does either parent of these two children have cystic ﬁbrosis? If so, which one(s)? How do you know? Q3: Do any of the grandparents of these two children have cystic ﬁbr

Biology: The Dynamic Science (MindTap Course List)

4th Edition

ISBN:9781305389892

Author:Peter J. Russell, Paul E. Hertz, Beverly McMillan

Publisher:Peter J. Russell, Paul E. Hertz, Beverly McMillan

Chapter13: Genes, Chromosomes, And Human Genetics

Section: Chapter Questions

Problem 2TYK: The following pedigree shows the pattern of inheritance of red green color blindness in a family....

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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 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?
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?
The Online Mendelian Inheritancein Man (OMIM) databaseis a catalog of human genesand human disorders that are inheritedin a Mendelian manner. Genetic disordersthat arise from major chromosomalaberrations, such as monosomyor trisomy(the loss of a chromosome orthe presence of a superfluous chromosome,respectively), are not included.The OMIM database, updated daily, is aversion of the book Mendelian Inheritancein Man, conceived and edited by Dr. VictorMcKusick of Johns Hopkins University,until he passed in 2008.The OMIM entries provide links to awealth of information, including DNAand protein sequences, chromosomalmaps, disease descriptions, and relevantscientific publications. In this exercise,you will explore OMIM to answer questionsabout the recessive human diseasesickle-cell anemia and other Mendelianinherited disorders.Exercise I – Sickle-Cell AnemiaIn this chapter, you were introduced torecessive and dominant human traits.You will now discover more about sicklecellanemia as an…
For Mendelian inheritance, the nuclear genotype (i.e., the allelesfound on chromosomes in the cell nucleus) directly influences anoffspring’s traits. In contrast, for non-Mendelian inheritance patterns, the offspring’s phenotype cannot be reliably predicted solelyfrom its genotype. For the following traits, what do you need toknow to predict the phenotypic outcome?A. Dwarfism due to a mutant Igf2 alleleB. Snail coiling directionC. Leber hereditary optic neuropathy
A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?
AKS 7b/7e Mendelian Inheritance In pea plants the allele for round seeds (R) is dominant to the allele for oval seeds (r). In a cross between the two heterozygous plants what percentage of the offspring will have round seeds? * O 75% O 50% O 25% O 100% This is a required question In pigeons, the allele for normal feathers (F) is dominant to the allele for frizzy feathers (f). If a purebred, normal feathered bird (FF) is crossed with a frizzy
This pedigree (Pedigree #2) illustrates the inheritance of a simple Mendelian trait. If individuals III- 5 and III-6 have children, what are the chances that the children would have this disorder? 0% 1/4 2/3 O 1/6 ㅇㅁ
In Drosophila, the autosomal recessive dp allele ofthe dumpy gene produces short, curved wings, whilethe autosomal recessive allele bw of the brown genecauses brown eyes. In a testcross using femalesheterozygous for both of these genes, the followingresults were obtained:wild-type wings, wild-type eyes 178wild-type wings, brown eyes 185dumpy wings, wild-type eyes 172dumpy wings, brown eyes 181In a testcross using males heterozygous for both ofthese genes, a different set of results was obtained:wild-type wings, wild-type eyes 247dumpy wings, brown eyes 242a. What can you conclude from the first testcross?b. What can you conclude from the second testcross?c. How can you reconcile the data shown in parts (a)and (b)? Can you exploit the difference betweenthese two sets of data to devise a general test forsynteny in Drosophila?d. The genetic distance between dumpy and brown is91.5 m.u. How could this value be measured?
For the following problems, please choose from the following modes of inheritance: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive 8080 50 OTO ㅁㅇㅇㅁ I. What is the most likely mode of inheritance portrayed in the pedigree above?
Working with the definitions of penetrance and expressivity, analyze the following pedigree and assume that the father of the proband is homozygous for a rare trait. (Consider a rare trait here to be less than 1 in 30,000.) What pattern of inheritance other than autosomal recessive could explain this pedigree? In particular, explain the genotype and phenotype of the proband (arrow).
An individual heterozygous for four genes, A/a • B/b •C/c • D/d, is testcrossed with a/a • b/b • c/c • d/d, and 1000progeny are classified by the gametic contribution ofthe heterozygous parent as follows:a • B • C • D 42A • b • c • d 43A • B • C • d 140a • b • c • D 145a • B • c • D 6A • b • C • d 9A • B • c • d 305a • b • C • D 310a. Which genes are linked?b. If two pure-breeding lines had been crossed toproduce the heterozygous individual, what would theirgenotypes have been?c. Draw a linkage map of the linked genes, showing theorder and the distances in map units.d. Calculate an interference value, if appropriate