Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 2, Problem 3P
Galactosemia is an autosomal recessive disorder caused by the inability to
(a) Draw a pedigree that includes Amanda, Brice, and their siblings and parents. Identify the genotype of each person, using G and g to represent the dominant and recessive alleles, respectively.
(b) What is the probability that Amanda is a carrier of the allele for galactosemia? What is the probability that Brice is a carrier? Explain your reasoning for each answer.
(c) What is the probability that the first child of Amanda and Brice will have galactosemia? Show your work.
(d) If the first child has galactosemia, what is the prob-ability that the second child will have galactosemia? Explain the reasoning for your answer.
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Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage. In the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood, when brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems.
Q. Provide an explanation for these observations.
Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage. In the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood, when brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. a. Provide an explanation for these observations. b. What type of genetic effect is this? Explain your reasoning.
Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems.
Describe the results depicted in Fg1. and us it to provide an explanation for these observations
What type of genetic effect is…
Chapter 2 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 2 -
1. Compare and contrast the following terms:
a....Ch. 2 - For the cross , what is the expected genotype...Ch. 2 - 37. Galactosemia is an autosomal recessive...Ch. 2 - In mice, black coat color is dominant to white...Ch. 2 - Two parents plan to have three children. What is...Ch. 2 - Consider the cross AaBbCCAABbCc. a. How many...Ch. 2 - If a chi-square test produces a chi-square value...Ch. 2 -
8. Determine whether the statements below are...Ch. 2 - In the datura plant, purple flower color is...Ch. 2 - 10. The dorsal pigment pattern of frogs can be...
Ch. 2 - 11. Black skin color is dominant to pink skin...Ch. 2 - A male mouse with brown fur color is mated to two...Ch. 2 - 13. Figure 2.12 shows the results of Mendel’s...Ch. 2 - 14. An experienced goldfish breeder receives two...Ch. 2 -
15. The accompanying pedigree shows the...Ch. 2 -
16. A geneticist crosses a pure-breeding strain...Ch. 2 - Suppose an F1 plant from Problem 16 is crossed to...Ch. 2 - 18. In pea plants, the appearance of flowers along...Ch. 2 - 19. If two six-sided dice are rolled, what is the...Ch. 2 - Experimental Insight 2.1 describes data, collected...Ch. 2 -
21. The accompanying pedigree shows the...Ch. 2 - 22. The seeds in bush bean pods are each the...Ch. 2 - List all the different gametes that are possible...Ch. 2 - Organisms with the genotypes AABbCcDd and AaBbCcDd...Ch. 2 - 25. Blue moon beans produce beans that are either...Ch. 2 - In the fruit fly Drosophila, a rudimentary wing...Ch. 2 - In pea plants, plant height, seed shape, and seed...Ch. 2 - A variety of pea plant called Blue Persian...Ch. 2 - 29. In tomato plants, the production of red fruit...Ch. 2 - A male and a female are each heterozygous for both...Ch. 2 - A woman expressing a dominant phenotype is...Ch. 2 - Two parents who are each known to be carriers of...Ch. 2 - 33. An organism having the genotype AaBbCcDdEe is...Ch. 2 - 34. A man and a woman are each heterozygous...Ch. 2 - For a single dice roll, there is a 16 chance that...Ch. 2 - You have four guinea pigs for a genetic study. One...Ch. 2 - 37. Galactosemia is an autosomal recessive...Ch. 2 - Sweet yellow tomatoes with a pear shape bring a...Ch. 2 - A cross between a spicy variety of Capsicum annum...Ch. 2 - Alkaptonuria is an infrequent autosomal recessive...Ch. 2 - 41. Humans vary in many ways from one another....Ch. 2 - 42. In chickens, the presence of feathers on the...Ch. 2 -
43. A pure-breeding fruit fly with the...Ch. 2 - 44. Situs inversus is a congenital condition in...Ch. 2 - 45. Domestic dogs evolved from ancestral grey...Ch. 2 - Alleles of the IGF-1 gene in dogs, encoding...Ch. 2 - 47. The accompanying pedigree shows a family in...Ch. 2 -
48. A pea plant that has the genotype RrGgwwdd is...Ch. 2 - Go to the OMIM website...Ch. 2 - Prob. 50PCh. 2 - Prob. 51PCh. 2 -
52. In humans, the ability to bend the thumb...
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- Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. QUESTION: Describe the results depicted in Fig Use the first question to provide an explanation for these observations. What type of genetic effect…arrow_forwardPhenylketonuria (PKU) is a genetic disorder that causes the abnormal metabolism of the amino acid called phenylalanine. PKU is an autosomal recessive disease due to a mutation in the gene encoding the enzyme phenylalanine hydroxylase. Phenylalanine hydroxylase (PAH) usually converts excess phenylalanine into tyrosine. In persons with PKU, the remaining phenylalanine is instead converted into phenylpyruvate (also known as phenylketone). This results in a poisonous build-up of phenylketone in the blood and urine that is why it is called phenylketonuria. When PKU is untreated, it can lead to brain damage, mental retardation and other serious medical problems. Babies with PKU are normal at birth due to the mother’s ability to break down phenylalanine during pregnancy. PKU can be diagnosed through a simple blood test for elevated phenylalanine levels shortly after birth.Answer the following questions:1. What is phenylketonuria (PKU)? How important is the synthesis of correct proteins?2. How…arrow_forwardPhenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?arrow_forward
- parents, but her brother Alonzo has Galactosemia. Brice has a similar family history. He and his parents are healthy, but his sister Brianna has galactose, a component of the lactose found in mammalian milk. Galactosemia can be galactosemia. Amanda and Brice are planning on marrying and starting a family and partially managed by eliminating dietary intake of lactose and galactose. Amanda is Galactosemia is an autosomal recessive disorder caused by the inability to metabolize seek genetic counseling. Based on the information provided, complete the following: healthy, as are her A piaw a pedigree that includes Amanda, Brice, their siblings, and parents. Identily the genotypes of each person using G and a to represent the dominant and recessive alleles. B What is the probability that Amanda is a carrier of the allele for galactosemia? Same question for Brice? Explain. non bard bito te over ovodaarrow_forwardAchondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…arrow_forwardPhenylketonuria is one of the most common recessive genetic disorders in humans. Infants with PKU are missing an enzyme called phenylalanine hydroxylase, needed to break down an amino acid called phenylalanine. If a strict diet that minimizes the amount of phenylalanine in the diet is not followed, a severe nervous disorder may result. If two heterozygous parents have a child, hah is the possible genotype and phenotype for this individual?arrow_forward
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- Acatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme catalase; however, persons with this condition are usually only mildly affected. The enzyme catalase is found in most organisms and is a protection against oxidative damage, specifically breaking down the highly reactive oxygen species, hydrogen peroxide. Symptoms may include mouth ulcers that disappear with good dental hygiene; with poor dental hygiene, the ulcers can lead to gangrene in the mouth soft tissues. Persons with this condition usually do not know they are affected unless a family member is tested for the mutation. Dejah recently learned that her Uncle Malik had a dental surgery that was complicated by mouth ulcers and gangrenous tissue that had to be removed. The oral surgeon had learned about genetic conditions that affect oral hygiene and recognized that this could be acatalasemia, and ordered genetic testing. Uncle Malik was positive for this recessive condition, having…arrow_forwardOne of your patients, a six-year-old girl who suffers from Sickle cell anemia, an inherited blood disorder in which red blood cells are abnormally shaped and fragile, leading to a short supply of red blood cells. These abnormal cells can also get stuck in small vessels, which prevent blood flow, leading to fatigue, pain and other severe complications. Sickle cell anemia is an autosomal recessive disorder. Neither of your patient's parents has sickle cell anemia. What is the most likely genotype of her parents? (The normal beta-globin allele is abbreviated as B, and the abnormal allele as b.) one is B and one is b one is BB and one is bb both are Bb both are bb both are BBarrow_forwardNiemann 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 allelesarrow_forward
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