Concept explainers
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.
Sarah’s 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 Sarah’s 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.
Adam’s 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 cousin’s parents must have been heterozygous carriers of the mutant allele. If that is the case, Adam’s father could be a carrier as well. If Adam’s 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?
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Human Heredity: Principles and Issues (MindTap Course List)
- 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?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_forwardPedigree Analysis Is a Basic Method in Human Genetics Using the pedigree provided, answer the following questions. a. Is the proband male or female? b. Is the grandfather of the proband affected? c. How many siblings does the proband have, and where is he or she in the birth order?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_forwardPedigree Analysis Is a Basic Method in Human Genetics Pedigree analysis permits all of the following except: a. an orderly presentation of family information b. the determination of whether a trait is genetic c. the determination of whether a trait is dominant or recessive d. an understanding of which gene is involved in a heritable disorder e. the determination of whether a trait is sex-linked or autosomalarrow_forwardYou have been hired to produce a family tree for three generations of a family where a disorder called “blinky” syndrome is observed. People who suffer from blinky syndrome blink their eyes rapidly when they look at bright lights. In order to draw a pedigree chart for this family, you interview Mike and Annie. Neither suffer from this syndrome. Annie’s mother is normal, while Annie’s father blinked like crazy at bright lights. Annie has one sister and one brother and both of them are unaffected. While Annie’s sister has yet to have kids, her brother married a blinky sufferer. Mike’s mother is a blinker while his father is normal. Mike’s brother is just like their mother. In addition, this brother married a blinker. Mike’s sister is normal - as is her husband and their one boy. Draw a pedigree chart below in order to answer the following on the next page. Use the letters A and a for the genotypes. If more than one genotype is possible for an individual - you may write it as A with a…arrow_forward
- You have been hired to produce a family tree for three generations of a family where a disorder called “blinky” syndrome is observed. People who suffer from blinky syndrome blink their eyes rapidly when they look at bright lights. In order to draw a pedigree chart for this family, you interview Mike and Annie. Neither suffer from this syndrome. Annie’s mother is normal, while Annie’s father blinked like crazy at bright lights. Annie has one sister and one brother and both of them are unaffected. While Annie’s sister has yet to have kids, her brother married a blinky sufferer. Mike’s mother is a blinker while his father is normal. Mike’s brother is just like their mother. In addition, this brother married a blinker. Mike’s sister is normal - as is her husband and their one boy. Draw a pedigree chart below in order to answer the following on the next page. Use the letters A and a for the genotypes. If more than one genotype is possible for an individual - you may write it as A with a…arrow_forwardWhat could be the genotypic and phenotypic ratios for a typical mendelian trait showed in the picture?arrow_forwardA woman with fair skin, blond hair, and blue eyes gives birth to fraternal twins; the father has dark brown skin, dark hair, and brown eyes. One twin has blond hair, brown eyes, and light skin, and the other has dark hair, brown eyes, and dark skin. What Mendelian law does this real-life case illustrate and explain what this means in terms of the inherited alleles for these genes?arrow_forward
- Are Mendel’s principles of segregation and independent assortment even relevant today in the age of genomics, when it is possible to sequence an organism’s entire genome and determine all of its genetic information? Why is it important to study these principles, and how can they be used?arrow_forwardList and explain the 5 modes of inheritance in pedigree analysisarrow_forwardWhich of the following is evidence that Mendel had that helped him to construct his Law of Segregation?A) His F2 generation in the dihybrid cross resulted in a 1:1:1:1 distribution of phenotypes.B) He found no linkage of different genes in the offspring of his pea plants.C) The F1 generation of the monohybrid cross resulted in blended phenotypes.D) The F2 generation of the monohybrid cross resulted in the recessive trait reappearing as a phhenotype.E) Two of the above are correct.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning