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
expand_more
expand_more
format_list_bulleted
Concept explainers
Videos
Textbook Question
Chapter 22, Problem 3CS
CASE STUDY|An unexpected 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:
What are the chances that two heterozygotes will meet and have an affected child?
Expert Solution & Answer
Want to see the full answer?
Check out a sample textbook solution
Students have asked these similar questions
Niemann Pick Type C disease is a recessive disorder that causes the accumulation of cholesterol and other lipids in lysosomes, ultimately affecting both the liver and the nervous system. Below are the genotypes and phenotypes of offspring of a family with a history of Niemann Pick.
7 NN ( all normal phenotype)
3 Nn (all normal phenotype)
4 nn (1 early onset dementia, 1 mid-life onset dementia, 2 late-onset dementia).
From this information, Niemann-Pick disease is an example of:
A) variable expressivity
B) incomplete dominance
C) incomplete penetrance
D) variable expressivity and incomplete penetrance
E) multiple alleles
Aav
AaBbCc
Normal
No Spacing
Heading 1
Paragraph
Styles
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
9) Polysaccharide Storage Myopathy (PSM) is a dominant autosomal hereditary condition in horses that can cause muscle damage and inability to move. It is often referred to as “tying-up”. Equine hyperkalemic periodic paralysis (HYPP) is also a dominant autosomal hereditary condition in horses that has been traced back to a horse named Impressive who died in 1995 at the age of 26. Symptoms of HYPP include muscle twitching and unpredictable paralysis attacks that can lead to sudden death. Recall that with dominant disorders, only one dominant allele will result in the condition being manifested.
a. A stallion with HYPP and PSSM whose mother had neither disorder is crossed with a mare who has neither HYPP or PSSM. Construct a punnett square and state the probability that this cross will result in a foal with neither HYPP or PSSM (think of this as a two-gene cross).
b. What are the possible genotypes and phenotypes of all the foals?
c. Probability of a foal without HYPP or PSSM?
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...
Knowledge Booster
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- 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?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
- 15 1 point What is the most likely mode of inheritance of the disease depicted in the following pedigree? ||| IV 1 autosomal dominant autosomal recessive 2 N 1 2 2 3 3 4 3 4 5 --Darrow_forward17-19. A man and women of normal phenotype have a son with Duchenne muscular dystrophy, a sex-linked recessive disorder. They are planning to have another child and you ask for genetic counseling for the following: A. What is the likelihood that another child will have this disease if it is a boy?___ B. What is the likelihood that another child will have the disease if it is a girl? C. What is the overall chance of any child in their family getting the disease? OA= 1/4 or 25%, B = 0%, C = 3/4 or 75% A = 1/2 or 50%, B = 1/2 or 50%, C = 1/4 or 25% OA = 1/2 or 50%, B = 0%, C = 1/4 or 25% A = 0%, B = 0%, C = 1/4 or 25%arrow_forwardConsider the following pedigree. 하 3 10 (5 3 2 (a) What pattern of transmission is most consistent with this pedigree? (1) autosomal recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant. (b) If individual V-2 marries a normal individual, and if the condition has a pene-trance of 85 percent, what is the probability that their second child will express the trait? (c) On the third line, what does the diamond with a 10 in the middle mean?arrow_forward
- Name Sofia Falcione P Pedigree Analysis Practice - for each pedigree, write the genotypes of the individuals The disorder shown on the pedigree is Maple Syrup Urine Disease (MSUD) which is a metabolic disorder that affects the body's ability to process certain proteins. It was named after a distinctive odor of a baby's urine. 1. What is the inheritance pattern of this gene? a) autosomal dominant b) autosomal recessive c) X-linked recessive 2. Provide at least one piece of evidence for your claim. This pedigree shows the inheritance Leber congenital amaurosis (LCA) which is a type of hereditary blindness. Individuals with this disease lose their vision during childhood. 3. What is the inheritance pattern shown? 4. Highlight one individual whose genotype is unknown. What additional information would you need to determine his/her genotype? Marfan syndrome affects the connective tissue and causes individuals to have long, thin, arms, legs, fingers and toes. 5. What is the inheritance…arrow_forwardthe offspring ès) can often be autosomal I 1.1 III ad amalg od no IV 9 OTO 5 0000 anivellor and goje 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.arrow_forwardtion 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 " O 1 III. 50% E III 1 ▬ 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 3arrow_forward
- Pancreatic cancer is clearly inherited as an autosomal dominant trait in the family illustrated in Figure 23.1. Yet most cases of pancreatic cancer are sporadic, appearing as isolated cases in families with no obvious inheritance. How can a trait be strongly inherited in one family and not inherited in another?arrow_forward40 Below is a pedigree of a family, some of whom have the autosomal dominant condition Huntington's disease. Affected individuals are indicated by a dark square or circle. The male in generation I (indicated by the arrow) is heterozygous for the Huntington's disease mutation. The following two questions relate to this pedigree. Generation II II If H represents the disease allele, and h the wild type allele, what is the genotype of the individual indicated by the *? Select one alternative: O hh O Hh O hH O HHarrow_forwardTuberous Sclerosis (TS) is an autosomal dominant genetic disease characterized by seizures, mental retardation, autism, and benign tumors of the brain, heart, skin, and kidneys. The kidney tumors can also be malignant. This disease exhibits a wide range of severity, and only about 1/3 of the cases are inherited. Two different genes have been tightly linked to the disease in families where it is inherited. The remaining 2/3 appear to be due to mutations in one of the 2 genes as well. Overall it appears that 1/2 are caused by mutations in TSC1 and the other half by mutations in TSC2. A rat model for hereditary renal carcinoma (kidney cancer) has been found. Southern and Northern blot analysis of the TSC1 and TSC2 gene revealed no differences between these rats and normal rats. Not all the rats in the strain would get cancer but a significant proportion did and those were selected for and used in experiments. 1. a) What was detected by the Southern blots? (look this up, make your…arrow_forward
arrow_back_ios
SEE MORE QUESTIONS
arrow_forward_ios
Recommended textbooks for you
Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning
Biology (MindTap Course List)BiologyISBN:9781337392938Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. BergPublisher:Cengage Learning
Human Heredity: Principles and Issues (MindTap Co...
Biology
ISBN:9781305251052
Author:Michael Cummings
Publisher:Cengage Learning
Biology (MindTap Course List)
Biology
ISBN:9781337392938
Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg
Publisher:Cengage Learning
Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY