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.

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.

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Description: 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. D

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...

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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.
There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome, Angelman syndrome. Angelman syndrome results from deletion of UBE3A, which is a gene imprinted such that only the maternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of UBE3A and does not have Angelman syndrome. Individual I-2 is homozygous wild type for UBE3A. Which individuals in the pedigree are at risk for exhibiting Angelman syndrome, if any? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?) Question 8 options: Only I-1 could have been at risk. If he does not have the syndrome, no one in the pedigree could. Only III-1 is at risk I-1, II-2, and III-1 are all at risk Only II-2 is at risk No one in the pedigree is at risk Both II-2 and III-1 are at…
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene that encodes dystrophin, a large protein that plays an important role in the development of normal muscle fibers. The Dystrophin gene is immense, spanning 2.5 million base pairs, and includes 79 exons and 78 introns. Many of the mutations that cause DMD produce premature stop codons, which bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin. Some geneticists have proposed treating DMD patients by introducing small RNA molecules that cause the spliceosome to skip the exon containing the stop codon (A. Goyenvalle et al., 2004. Science 306:1796–1799). The introduction of the small RNAs will produce a protein that is somewhat shortened because an exon is skipped and some amino acids are missing, but it may still result in a protein that has some function. The small RNAs, antisense RNAs, used for exon skipping are complementary to…
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene that encodes dystrophin, a large protein that plays an important role in the development of normal muscle fibers. The dystrophin gene is immense, spanning 2.5 million base pairs, and includes 79 exons and 78 introns. Many of the mutations that cause DMD produce premature stop codons, which bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctionalform of dystrophin. Some geneticists have proposed treating DMD patients by causing the spliceosome to skip the exon containing the stop codon. Exon skipping would produce a protein that is somewhat shortened (because an exon is skipped and some amino acids are missing), but might still result in a protein that had some function (A. Goyenvalle et al. 2004. Science 306:1796–1799). Propose a possible mechanism to bring about exon skipping for the treatment of DMD.
Prader-Willi Syndrome (PWS) is caused by a mutation in an autosomal gene that is maternally imprinted. If a male is affected with PWS, each of his sons has a ["100%", "75%", "50%", "25%", "0%"] chance of being affected with PWS, and each of his daughters has a ["50%", "75%", "25%", "0%", "100%"] chance of being affected with PWS. Pick answers within quotation marks to fill in blanks.
Phenylketonuria (PKU) is a disease that results from a recessive gene.Suppose that two unaffected parents produce a child with PKU. a. What is the probability that a sperm from the father will contain the PKU allele?b. What is the probability that an egg from the mother will contain the PKU allele?c. What is the probability that their next child will have PKU?d. What is the probability that their next child will be heterozygous for the PKU gene?
Phenylketonuria (PKU) is a disease that results from a recessive gene. Suppose that two unaffected parents produce a child with PKU. a. What is the probability that a sperm from the father will contain the PKU allele? b. What is the probability that an egg from the mother will contain the PKU allele? c. What is the probability that their next child will have PKU? d. What is the probability that their next child will be heterozygous for the PKU gene?
The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.
There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome and Angelman syndrome. Prader-Willi syndrome results from deletion of region 15q11-q13, which in healthy individuals is a region imprinted such that only the paternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of region 15q11-q13 and does not have Prader-Willi syndrome. Individuals I-2 and II-1 are both homozygous wild type for the region. Which individuals in the pedigree might have Prader-Willi syndrome? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?) Question 9 options: Only II-2 could have Prader-Willi syndrome III-1 could have Prader-Willi syndrome in the presented pedigree; II-2 could only have had it if she were male Both II-2 and III-1 could have Prader-Willi syndrome II-2 could have…
A couple who are both heterozygous for an autosomal recessive mutation that is narrowly expressed and fully penetrant are planning on having three children. What is the probability that one their children will be normal (unaffected) and two children will have the recessive mutant phenotype? Show your work. Please answer this question using the Bayes’ Theorem
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?
Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and cartilage.It is caused by an autosomal dominant mutation of agene located on chromosome 17. Consider the followingobservations in sequence, and in each case, draw whateverappropriate conclusions are warranted.(a) Of those with the syndrome who are karyotypically46,XY, approximately 75 percent are sex reversed,exhibiting a wide range of female characteristics.(b) The nonmutant form of the gene, called SOX9, isexpressed in the developing gonad of the XY male,but not the XX female.(c) The SOX9 gene shares 71 percent amino acid codingsequence homology with the Y-linked SRY gene.(d) CMD1 patients who exhibit a 46,XX karyotypedevelop as females, with no gonadal abnormalities.