Achondroplasia is a form of dwarfism that is inherited in humans as an autosomal dominant disorder. A survey in a small country showed that, within a two-year period, there were 24 children with normal parents born with this disorder out of a total of 16,789 births. What is the mutation rate in mutations/locus/generation? answer to the nearest 0.0001.

Achondroplasia is a form of dwarfism that is inherited in humans as an autosomal dominant disorder. A survey in a small country showed that, within a two-year period, there were 24 children with normal parents born with this disorder out of a total of 16,789 births. What is the mutation rate in mutations/locus/generation? answer to the nearest 0.0001.

Name: Achondroplasia is a form of dwarfism that is inherited in humans as an
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: Achondroplasia is a form of dwarfism that is inherited in humans as an autosomal dominant disorder. A survey in a small country showed that, within a two-year period, there were 24 children with normal parents born with this disorder out of a total o

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 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

See similar textbooks

Similar questions

If every human gamete contains approximately 30,000 genes and if the forward mutation rate is between 1 x 10-5 and 1 x 10-6 new mutations per gene per generation, what is the average number of new mutations per gamete per generation?
Until very recently, the fitness of an individual getting familial retinoblastoma was zero, and if the frequency of babies with the inherited disease is 1/20000, what is the best estimate of the mutation rate of the wild type allele to the non-functional form?
Consider a recessive condition where 40% of the affected individuals pass away by the age of 10 but those that survive to adulthood are just as likely to have children as the general population. What must the new mutation rate be if the incidence of the disorder is 1/10,000 to maintain a consistent incidence across generations? Answer format: Fraction - #/#
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?
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. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.
For three years, Gunther Schlager and Margaret Dickie estimated theforward and reverse mutation rates for five loci in mice that encodevarious aspects of coat color by examining more than 5 million mice forspontaneous mutations (G. Schlager and M. M. Dickie. 1966. Science151:205–206). They detected the following numbers of mutations at thedilute locus: Gametes examined Mutations detectedForwardmutations 260,675 5Reversemutations 583,360 2 Calculate the forward and reverse mutation rates at this locus. If thesemutations rates are representative of rates in natural populations of mice,what would the expected equilibrium frequency of dilute mutations be?
Consider the following estimates:(a) There are 7 x 109 humans living on this planet.(b) Each individual has about 20,000 (0.2 * 105) genes.(c) The average mutation rate at each locus is 10-5.How many spontaneous mutations are currently present inthe human population? Assuming that these mutations areequally distributed among all genes, how many new mutationshave arisen in each gene in the human population?
If you had the ability to do gene editing with ONE gene for the betterment of human kind, which one would you choose, and why? Assume you could either change an abnormal allele associated with a disease, such as the cystin gene associated with Cystic Fibrosis to its normal wild type, or add a pre-existing human allele to a genome.
Prader-Willi syndrome is caused by a mutation in anautosomal maternally imprinted gene. Label the following statements as true or false, assuming that thetrait is 100% penetrant.a. Sons of affected males have a 50% chance of showing the syndrome.b. Daughters of affected males have a 50% chance ofshowing the syndrome.c. Sons of affected females have a 50% chance ofshowing the syndrome.d. Daughters of affected females have a 50% chanceof showing the syndrome.
Consider the case of a hypothetical genetic disease called WhySciEleven (WSE), an inherited disease that results to the inability to complete production of an amino acid “moduleactivity” that results in brain damage if untreated. WSE is due to a recessive allele. Given one WSE occurrence per 10,000 births. Which term in the Hardy-Weinberg equation corresponds to the frequency of individuals who have no alleles for the disease WSE? a. p b. 2pq c. p2 d. q2
One particularly useful feature of the Hardy-Weinberg equation is that it allows us to estimate the frequency of heterozygotes for recessive genetic diseases, assuming that Hardy-Weinberg equilibrium exists. As an example, let’s consider cystic fibrosis, which is a human genetic disease involving a gene that encodes a chloride transporter. Persons with this disorder have an irregularity in salt and water balance. One of the symptoms is thick mucus in the lungs that can contribute to repeated lung infections. In populations of Northern European descent, the frequency of affected individuals is approximately 1 in 2500. Because this is a recessive disorder, affected individuals are homozygotes. Assuming that the population is in Hardy-Weinberg equilibrium, what is the frequency of individuals who are heterozygous carriers?
Tay–Sachs disease is caused by loss-of-function mutations ina gene on chromosome 15 that encodes a lysosomal enzyme.Tay–Sachs is inherited as an autosomal recessive condition.Among Ashkenazi Jews of Central European ancestry, about1 in 3600 children is born with the disease. What fraction ofthe individuals in this population are carriers?