6. The pedigree below traces the inheritance of a particular disorder. Circles are females, squares are males. Shaded symbols are affected with the disorder (NOTE: "half-shaded" symbols are NOT used here, for heterozygous individuals). What is the mode of inheritance of this disorder: is it dominant or recessive? Autosomal or X-linked? What is the genotype of the three numbered individuals? 1 2. 3.

6. The pedigree below traces the inheritance of a particular disorder. Circles are females, squares are males. Shaded symbols are affected with the disorder (NOTE: "half-shaded" symbols are NOT used here, for heterozygous individuals). What is the mode of inheritance of this disorder: is it dominant or recessive? Autosomal or X-linked? What is the genotype of the three numbered individuals? 1 2. 3.

Biology (MindTap Course List)

11th Edition

ISBN:9781337392938

Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Chapter16: Human Genetics And The Human Genome

Section: Chapter Questions

Problem 9TYU: Examine the following pedigrees. Which is the most likely mode of inheritance of each disorder? (a)...

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A heterozygous individual has a _______ for a trait being studied. a. pair of identical alleles b. pair of nonidentical alleles c. haploid condition, in genetic terms
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?
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 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?
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. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
1. In the pedigree below, Use "A" for the allele associated with the dominant phenotype, and lowercase "a" for the allele associated with the recessive phenotype. Determine what is the most likely mode of inheritance of this disease (whether it is inherited as the result of an autosomal dominant or autosomal recessive trait). Write the most probable genotype for each individual based on the mode of inheritance you have determined. Show how all the partners are crossed and the expected offspring produced (You may use Punnett Square) 1 dró || IV
6. A person is simultaneously heterozygous for two autosomal genetic traits. One is a recessive condition foralbinism (alleles A and a); this albinism gene is foundnear the centromere on the long arm of an acrocentricautosome. The other trait is the dominantly inheritedHuntington disease (alleles HD and HD+). TheHuntington gene is located near the telomere of oneof the arms of a metacentric autosome. Draw all copies of the two relevant chromosomes in this person asthey would appear during metaphase of (a) mitosis,(b) meiosis I, and (c) meiosis II. In each figure, labelthe location on every chromatid of the alleles forthese two genes, assuming that no recombinationtakes place.
11. Below is a pedigree chart of an autosomal recessive disorder. Answer the following questions using the correct genetic terminology (do not just write letters like “Ee”). A. What is the genotype of individual 1 in generation II? B: What is the genotype of individual 2 in generation I?C: Is it true that individuals 6, 7, 8, 9, and 10 in generation III all have the same genotype? Why or why not?
12. A. B. C. A certain type of migraine headache (M) is dominant to no migraines (m). What is the genotype of a man who has migraine headaches if his father did not have them? What is the genotype of a man who has migraine headaches if his mother did not have them? If a woman without migraines marries a man who is heterozygous for migraines, what would you expect for the genotypes and phenotypes of their children? If two people who are heterozygous for migraines marry and have children, what would you expect for the genotypes and phenotypes of the children.
1 II 1 4 6. II 1 2 4 5 6. 8. IV The above image shows a pedigree for a monogenic inherited disease. Although this trait is only observed in males in this family, the pattern of inheritance of this disease is autosomal recessive. Use the pedigree to explain why the inheritance of this disease cannot be autosomal dominant. If this trait is X-linked recessive, what would be the genotypes of the people in Row I? 2. 2. 3. 2. 3.
II. Given the following pedigree below, use Punnett squares for each of the following possibilities: a) X- linked dominant and b) X-linked recessive in order to determine what is the mode of transmission of this trait. Disease allele = XA or Xª, depending on mode of transmission of the disease respectively. *Unaffected/No carrier-Normal Unaffected X chromosome = X I || III 1 1 2 a) X-linked recessive 9 III 6 genotype (circle one): XX * 1 2 3 11x12 4 ΧΑΧΑ 2 5 xaxa *4 6 7 8 b) X-linked dominant 11 x 12 오 XAX хах
1) Symptoms of 4 disorders are listed. Using the lists given, fill in the correct letter for the condition name and inheritance type. Letters may be used more than once. Symptoms Condition Inheritance Туре Loss of muscle control and decline in mental ability Shades of red and green are hard to distinguish Lack of skin pigmentation Cannot produce one of the necessary blood clotting factors Conditions: Inheritance Type: A: Albinism E: X-linked dominant B: Huntington Disease F: X-linked recessive G: Y-linked C: Hemophilia H: Autosomal dominant I: Autosomal recessive D: CVD
8. Huntington’s disease is a degenerative disease of the nervous system that strikes in middle age. The allele that causes the disease (H) is dominant to the allele that results in the normal condition (h). Answer the following questions about the inheritance of this disease. A. What is the genotype of a man who is normal but whose father had Huntington’s disease? B. What is the genotype of a woman who has Huntington’s disease if both of her parents had Huntington’s disease? C. If a man who is heterozygous for Huntington’s disease marries a woman who is normal, what would you expect for the genotypes and phenotypes of their children? D. If a normal man marries a woman who is homozygous for Huntington’s disease, what do you expect for the genotypes and phenotypes of their children?