Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Textbook Question
Chapter 22, Problem 2CS
CASE STUDY |Anunexpected outcome
A newborn screening program identified a baby with a rare autosomal recessive disorder called arginosuccinate aciduria (AGA), which causes high levels of ammonia to accumulate in the blood. Symptoms usually appear in the first week after birth and can progress to include severe liver damage, developmental delay, and mental retardation. AGA occurs with a frequency of about 1 in 70,000 births. There is no history of this disorder in either the father's or mother's family. This case raises several questions:
If the disorder is so rare, what is the frequency of heterozygous carriers in the population?
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If individual 2 were to marry a woman with no family history of the disease, which of the following
would most likely be true of their children?
a. All of the children would have the disease.
b.
None of the children would have the disease.
c.
Only the sons would have the disease.
d. All of the sons would be carriers of the disease.
e. None of the daughters would be carriers of the disease.
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In man, two abnormal conditions, cataracts (C) in the eyes and excessive fragility (F) in the bones, seem
to depend on separate dominant genes located on different chromosomes. Normal vision and normal
bones are recessive traits. A man with cataracts and nomal bones, whose father had normal eyes, married
a woman free from cataracts but with fragile bones. Her father had normal bones.
11.
What is the genotype of the man with cataracts and nomal bones?
What is the genotype of the woman with normal vision and fragile bones?
What type of offspring might this couple expect?
Genotypes Phenotypes
What is the probability that their first child will,
(a) be free from both abnormalities
(b) have cataracts but not fragile bones
(c) have fragile bones but not cataracts
(d) have both cataracts and fragile bones?
lili
tion 8:
below is the pedigree of inheritance of phenylketonuria (PKU). We will designate the letter
Caven
for the dominant allele and "p" for the recessive allele.
4
The pedigree shows that the pattern of inheritance for the allele for
phenylk
ylketonuria is:
I.
II.
1
III.
IV.
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
b. The parents in generation I have how many children:
I.
3 Boys
II.
3 Girls
III.
IV.
3 Boys and 1 Girl
3 Girls and 1 Boy
c. What is the genotype of individual 1 in generation III:
I. PP
II. pp
III. Pp
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1
III. 50%
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III
1
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2
2
IV. 25%
1
3
IV. Can be PP or Pp
ii. Suppose that a man having type AB blood marries a woman having type O blood. What is the
probability that their child will have type A blood?
I. 100%
II. 75%
2
4
3
Chapter 22 Solutions
Essentials of Genetics (9th Edition) - Standalone book
Ch. 22 - CASE STUDY |An unexpected outcome A newborn...Ch. 22 - CASE STUDY |Anunexpected outcome A newborn...Ch. 22 - CASE STUDY|An unexpected outcome A newborn...Ch. 22 - HOW DO WE KNOW? Population geneticists study...Ch. 22 - Review the Chapter Concepts on page 441. All these...Ch. 22 -
3. Price et al. (1999. J. Bacteriol. 181:...Ch. 22 -
4. The genetic difference between two Drosophila...Ch. 22 - The use of nucleotide sequence data to measure...Ch. 22 - Calculate the frequencies of the AA, Aa, and aa...Ch. 22 - Prob. 7PDQ
Ch. 22 -
8. What must be assumed in order to validate the...Ch. 22 - In a population where only the total number of...Ch. 22 -
10. If 4 percent of a population in equilibrium...Ch. 22 -
11. Consider a population in which the frequency...Ch. 22 - If the initial allele frequencies are p = 0.5 and...Ch. 22 -
13. Under what circumstances might a lethal...Ch. 22 - Assume that a recessive autosomal disorder occurs...Ch. 22 -
15. One of the first Mendelian traits identified...Ch. 22 -
16. Describe how populations with substantial...Ch. 22 - Achondroplasia is a dominant trait that causes a...Ch. 22 -
18. A recent study examining the mutation rates...Ch. 22 - A form of dwarfism known as Ellis–van Creveld...Ch. 22 -
20. List the barriers that prevent interbreeding...Ch. 22 - What are the two groups of reproductive isolating...Ch. 22 - Prob. 22PDQCh. 22 -
23. In a recent study of cichlid fish inhabiting...Ch. 22 - What genetic changes take place during speciation?Ch. 22 - Some critics have warned that the use of gene...Ch. 22 - Comparisons of Neanderthal mitochondrial DNA with...
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- Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?arrow_forwardMike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?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_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. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?arrow_forward2) Indicate the pattern of inheritance for the human genetic disorders. Use letter symbols for your answers (AR, AD, XR,XD, M) where appropriate. Table 2. HUMAN GENETIC DISORDER PATTERN OF INHERITANCE Marfan Syndrome Sickle Cell Anemia Classical Hemophilia Hypophosphatemia Cystic Fibrosis Phenylketonuria Huntington’s Disease Tay Sachs Disease Neurofibromatosis Alkaptonuria Xeroderma pigmentosum Kearns-Sayre Syndrome Achondroplasia Beta thalassemia Duchene Muscular Dystrophyarrow_forward
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