Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 4, Problem 13QP
Analysis of Autosomal Recessive and Dominant Traits
The father of 12 children begins to show symptoms of Huntington disease.
- a. What is the probability that Sam, the man’s second-oldest son (II-2), will suffer from the disease if he lives a normal life span? (Sam’s mother and her ancestors do not have the disease.)
- b. Can you infer anything about the presence of the disease in Sam’s paternal grandparents?
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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).
MODIFIED TRUE OR FALSE. In the following items, read each statement carefully. I. The Mendelian pattern of inheritance is a general term that refers to any pattern of inheritance in which traits do not segregate in accordance with Mendel’s lawsII. As an example, a characteristic may be controlled by one gene with two alleles, but the two alleles have a same relationship like the simple dominant-recessive relationship
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d. Both statements are wrong
MODIFIED TRUE OR FALSE. In the following items, read each statement carefully. I. The continuity of life from one cell to another has its foundation in the reproduction of cells by way of the cell cycle.II. The cell cycle is an orderly sequence of events in the life of a cell from the division of a single parent cell to produce…
Question:-
Based on your selected mode of inheritance, show the genotypes for the following individuals. [Use these symbols for alleles: if it is autosomal, then use the symbols B - dominant, b - recessive (e.g. BB, bb etc.) if it is X-Linked, then X(B) - dominant, X(b) - recessive, and Y for Y-chromosome (e.g. X(B)X(B), X(B)Y etc.) ]
I-1
I-2
II-7
II-8
III-10
III-11
III-12
IV-8
IV-9
Chapter 4 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 4.3 - Does a pedigree drawn from the available...Ch. 4.3 - Prob. 2EGCh. 4.7 - Did the fact that Prince Albert and Queen Victoria...Ch. 4.7 - Which members of the pedigree could have been...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...
Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Use the following information to respond to the...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - A proband female with an unidentified disease...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Prob. 12QPCh. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Prob. 16QPCh. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Prob. 23QPCh. 4 - Prob. 24QPCh. 4 - Variations in Phenotype Expression Define...Ch. 4 - Prob. 26QPCh. 4 - Variations in Phenotype Expression A genetic...Ch. 4 - Variations in Phenotype Expression Explain how...
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- Analysis of Autosomal Recessive and Dominant Traits a. What pattern of inheritance is suggested by the following pedigree? b. For genotype assignment, assume that the pedigree is for an autosomal dominant trait and that the affected male in the first generation is heterozygous. Assign genotypes to all other individuals in the pedigree.arrow_forwardAnalysis of Autosomal Recessive and Dominant Traits In the following pedigree, assume that the father of the proband is homozygous for a rare trait. What pattern of inheritance is consistent with this pedigree? In particular, explain the phenotype of the proband.arrow_forwardAnalysis of X-Linked Dominant and Recessive Traits Suppose a couple, both phenotypically normal, have two children: one unaffected daughter and one son affected with a genetic disorder. The phenotype ratio is 1:1, making it difficult to determine whether the trait is autosomal or X-linked. With your knowledge of genetics, what are the genotypes of the parents and children in the autosomal case? In the X-linked case?arrow_forward
- Analysis of Autosomal Recessive and Dominant Traits Does the indicated individual (III-5) show the trait in question?arrow_forwardKnowing that individuals who are homozygous for the GD allele show no symptoms of galactosemia, is it surprising that galactosemia is a recessive disease? Why?arrow_forwardFamilial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?arrow_forward
- Both Duchenne muscular dystrophy and color blindness are caused by recessive alleles. DMD, unlike color blindness, nearly always occurs in males. Explain why.arrow_forwardAnalysis of X-Linked Dominant and Recessive Traits As a genetic counselor investigating a genetic disorder in a family, you are able to collect a four-generation pedigree that details the inheritance of the disorder in question. Analyze the information in the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linkedarrow_forwardAnalysis of Autosomal Recessive and Dominant Traits Using the following pedigree, deduce a compatible pattern of inheritance. Identify the genotype of the individual in question.arrow_forward
- A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What if the couple wanted prenatal testing so that a normal fetus could be aborted?arrow_forwardA couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?arrow_forwardA couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?arrow_forward
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