Biology: The Unity and Diversity of Life (MindTap Course List)
15th Edition
ISBN: 9781337408332
Author: Cecie Starr, Ralph Taggart, Christine Evers, Lisa Starr
Publisher: Cengage Learning
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Chapter 14, Problem 6GP
A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern?
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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.
Achondroplasia 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…
Chapter 14 Solutions
Biology: The Unity and Diversity of Life (MindTap Course List)
Ch. 14 - Prob. 1DAACh. 14 - Prob. 2DAACh. 14 - Prob. 3DAACh. 14 - Prob. 4DAACh. 14 - Prob. 5DAACh. 14 - Prob. 1SQCh. 14 - Pedigree analysis is necessary when studying human...Ch. 14 - A recognized set of symptoms that characterize a...Ch. 14 - Prob. 4SQCh. 14 - A trait that is present in a male child but not in...
Ch. 14 - Choose the statement that is incorrect. a. A son...Ch. 14 - Prob. 7SQCh. 14 - Prob. 8SQCh. 14 - Klinefelter syndrome (XXY) can most be easily...Ch. 14 - Prob. 10SQCh. 14 - Does the phenotype indicated by the red circles...Ch. 14 - G6PD deficiency is an X-Linked recessive disorder....Ch. 14 - Marian syndrome (Section 13.5) is inherited in an...Ch. 14 - Duchenne muscular dystrophy, which is inherited in...Ch. 14 - Human females have two X chromosomes (XX); males...Ch. 14 - A mutation on an autosome causes a particular...Ch. 14 - Expression of the SRY gene on the Y chromosome...Ch. 14 - The somatic cells of most individuals with Down...Ch. 14 - Mutations in the genes for clotting factor VIII...
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- Phenylketonuria (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_forwardYou are discussing the genetic pedigree of a client with a history of autosomal dominant disease in his family. You explain that while a recessive mutation requires both copies of the gene to be mutated in order to cause clinical disease, an autosomal dominant mutation can cause disease when only one copy of the gene is affected. Describe the different mechanisms by which dominance occurs, giving examples of each.arrow_forwardPhenylketonuria (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…arrow_forward
- 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_forwardWhat unusual phenomenon is at work in each of the following disorders?arrow_forwardBloom's Syndrome is an autosomal recessive disorder due to mutations in a helicase protein. Some of the consequences of this disease are higher frequency of cancer and a shortened lifespan. Which of the following properties would not be expected to be associated with this disorder? two carrier parents one carrier parent and one normal onearrow_forward
- One 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_forwardAlbinism is characterized by the lack of a dark pigment called melanin in the hair, skin and eyes. Albinism is caused by the absence of an functioning enzyme called thyrosinase, which is necessary for the synthesis of melanin. Given this bit of information, what can you assume about the heredity pattern of this trait? A) It is caused by a recessive allele of the gene coding for thyrosinase. B) It is caused by a dominant allele of the gene coding for melanin. C) It is caused by a dominant allele of the gene coding for thyrosinase. D) It is caused by a recessive allele of the gene coding for melanin. E) There is not enough information here to tellarrow_forward1a) Explain how amino acids in casein could reach the liver, starting fromthe moment when the person takes a bite of pastry cream pie. b) Congenital lactase deficiency is a type of lactose intolerance that occursin infants. It is inherited in an autosomal recessive pattern. Calculate thechance of congenital lactose intolerance in a child whose parents are both carriersfor the disorder, showing fully how you reached your answer.arrow_forward
- Tay Sachs is a rare autosomal recessive disorder that causes mental and physical disabilities leading to death in infants. Affected individuals are lacking the enzyme hexosaminidase, causing lipids to build up in the brain.The HEXA gene on chromosome 15 codes for hexosaminidase, and a four base pair insertion in the gene results in an altered reading frame and non-functional enzyme being produced. Individuals who are carriers (heterozygotes) of the Tay-Sachs allele are not affected by the disease but appear to have increased protection against tuberculosis.The incidence of Tay-Sachs disease is much higher among Ashkenazi Jews originating from Eastern Europe than the general population of the United States. About 1 in 3 500 babies of Ashkenazi Jewish heritage are born with Tay-Sachs disease and about 1 in 30 Ashkenazi Jews are carriers compared to about 1 in 320 000 babies born with the disease and about 1 in 300 carriers in the general United States population. Ashkenazi Jews living in…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_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
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