hich of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling u It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.

hich of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling u It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 20QP: The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions....

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Which of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)?
Six single-nucleotide polymorphism (SNP) loci are known to contribute to the development of type 2 diabetes. Diabetes is certain if eight or more of the alleles at these six loci are of the “contributing” variety. An uppercase letter indicates an allele that contributes to diabetes and a lowercase symbol indicates a noncontributing allele. A married couple wants to know the probability of producing a child who is at severe risk of type 2 diabetes. Their genotypes were determined by microarray analysis and are as follows: AaBbccDDEEFf × AaBbCCDdEeFf
Phenylketonuria (PKU) is an inherited disease caused by a recessive allele. Individuals with PKU have two recessive alleles and have very low levels of an enzyme that is needed to properly break down proteins. If a woman and her husband are both carriers and have three children, what is the probability of each of the following? Show your math. (Hint: You can represent your probabilities as fractions or decimals, but probabilities are always between 0 and 1) a. All three children are of normal phenotype. b. One or more of the three children have the disease. c.All three children have the disease.
A human gene called the β-globin gene encodes a polypeptide that functions as a subunit of the protein known as hemoglobin. Hemoglobin carries oxygen within red blood cells. In human populations, the β-globin gene can be found as the more common allele called the HbA allele, but it can also be found as theHbS allele. Individuals who have two copies of the HbS allele have the disease called sickle cell disease. Are the followingexamples a description of genetics at the molecular, cellular, organism, or population level?A. The HbS allele encodes a polypeptide that functions slightly differently from the polypeptide encoded by the HbA allele.B. If an individual has two copies of the HbS allele, that person’s red blood cells take on a sickle shape. C. Individuals who have two copies of the HbA allele do not have sickle cell disease, but they are not resistant to malaria. People who have one HbA allele and one HbS allele do not have sickle cell disease, and they are resistant to malaria.…
Take the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why…
Phenylketonuria (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?
In humans the allele coding for normal metabolism of the amino acid phenylalanine (P) is dominant over the recessive autosomal allele (p) that causes the disease phenylketonuria, or PKU. Without treatment, this disease is characterized by brain damage due to the failure of the gene to code correctly for the enzyme phenylalanine hydroxylase. If a man marries a woman and both are heterozygous for hemophilia and heterozygous for PKU, what is the chance that they will have a child afflicted by both diseases? Your response MUST include:(a): list the traits involved (example: Color: Blue- B (dominate) Green - b (recessive) -Do not use this example as this is not part of the problem(b): identify if its a monohybrid or dihybrid cross and why (use prompt above) (c): create a punnet square that represents the problem above
Lesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT is an enzyme that functions in purine metabolism.People afflicted with this syndrome have severe neurodegenerationand loss of motor control. The pedigree below contains severalindividuals with Lesch-Nyhan syndrome, shown with blacksymbols. Based on this pedigree, does this syndrome appearto be inherited by an autosomal recessive, autosomal dominant,X-linked recessive, or X-linked dominant pattern? Explainyour reasoning.
a. If an individual who is homozygous for the mutation found in individual 2 and heterozygous for the mutation found in individual 4 marries an individual who is homozygous for the mutation found in individual 4 and heterozygous for the mutation found in individual 2, what will be the phenotype of their children? b. List the intermediate that would build up in each of the types of children who could not produce protein E.
Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions. Let us assume that if at least 5% normal channels are present, the affected individual has mild symptoms of cystic fibrosis. Having less than 5% normal channels produces severe symptoms. At least 50% of the channels must be expressed for the individual to be phenotypically normal. This gene has various mutant recessive alleles: Predict the percent of functional channels and severity of symptoms for the following genotypes: a. heterozygous for CF100 b. homozygous for CF100 c. heterozygous, with one copy of CF100 and one of CF3 d. heterozygous, with one copy of CF1 and one copy of CF3
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?