out of t If one of the parents is found to have the mutation that causes DAD, it is most likely the statement) Row D. A B. C OB. B D c. c OD. D Select one: OA A i father Diabetes mellitus and deafness (DAD) is a genetic disorder caused by a point mutation at position 3243 in human mitochondrial DNA (mtDNA), which consists of a circular genome. As suggested by the name, patients with DAD are subject to hearing loss at certain frequencies as well as Type 1 diabetes. father mother mother After having a child born with DAD, a man and a woman decide to have their own DNA screened in order to determine who the mutation came from. ii mtDNA is coded for on the Y-chromosome mtDNA is inherited through sperm mtDNA is coded for on the X-chromosome mtDNA is inherited through ova becauseii (select the row that correctly completes the

out of t If one of the parents is found to have the mutation that causes DAD, it is most likely the statement) Row D. A B. C OB. B D c. c OD. D Select one: OA A i father Diabetes mellitus and deafness (DAD) is a genetic disorder caused by a point mutation at position 3243 in human mitochondrial DNA (mtDNA), which consists of a circular genome. As suggested by the name, patients with DAD are subject to hearing loss at certain frequencies as well as Type 1 diabetes. father mother mother After having a child born with DAD, a man and a woman decide to have their own DNA screened in order to determine who the mutation came from. ii mtDNA is coded for on the Y-chromosome mtDNA is inherited through sperm mtDNA is coded for on the X-chromosome mtDNA is inherited through ova becauseii (select the row that correctly completes the

Name: out of 1If one of the parents is found to have the mutation that caus
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Description: out of 1If one of the parents is found to have the mutation that causes DAD, it is most likely thestatement)RowA.B.CD.Select oneOA AOB. BOC. COD. DifatherfathermotherDiabetes mellitus and deafness (DAD) is a genetic disorder caused by a pointmutatio

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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Mutations in the HPRT1 gene in humans result in atleast two clinical syndromes. Consult OMIM (www.omim.org) by querying HPRT1; you will only needto look briefly at the top three hits (files #300322,300323, and 308000).a. What is the full name of the HPRT1 enzyme?b. On which chromosome is the HPRT1 gene located?c. Mutations in HPRT1 are associated with two different syndromes. What are these syndromes? Foreach, answer the following questions: (i) What arethe symptoms associated with the syndrome? (ii) Isthe mutant allele that causes the syndrome dominant, recessive, codominant, or incompletely dominant with respect to the normal allele, or do specialconditions apply? (iii) Is the syndrome associatedwith a loss-of-function or a gain-of-function disease allele? (iv) Does the syndrome display allelicheterogeneity? (v) Does the syndrome display locus heterogeneity? (Note: You do not need to understand everything in the OMIM entries to answerthese questions.)
We often speak of diseases such as phenylketonuria (PKU) andachondroplasia as having a genetic basis. Explain whether the followingstatements are accurate with regard to the genetic basis ofany human disease (not just PKU and achondroplasia).A. An individual must inherit two copies of a mutant allele to havedisease symptoms.B. A genetic predisposition means that an individual has inheritedone or more alleles that make it more likely that she or he willdevelop disease symptoms than other individuals in a populationwill.C. A genetic predisposition to develop a disease may be passedfrom parents to offspring.D. The genetic basis for a disease is always more important thanthe environment.
Does this statement is a example of a phenocopy? Explain your reasoning. Q. Phenylketonuria results from a recessive mutation that causes light skinas well as intellectual disability.
Sickle-cell anemia is a recessive autosomal disorderthat is caused by an amino acid substitution in theβ-hemoglobin protein. The DNA mutation underlyingthis substitution is a SNP that alters a GAG codon forthe amino acid glutamate to a GTG that codes a valine.The frequency of sickle-cell anemia among AfricanAmericans is about 1/400. What is the frequency ofthis GTG codon in the β-hemoglobin gene amongAfrican Americans?
In mice, the autosomal locus coding for the β-globinchain of hemoglobin is 1 m.u. from the albino locus. Assume for the moment that the same is true in humans. The disease sickle-cell anemia is the result ofhomozygosity for a particular mutation in theβ-globin gene.a. A son is born to an albino man and a woman withsickle-cell anemia. What kinds of gametes will theson form, and in what proportions?b. A daughter is born to a normal man and a womanwho has both albinism and sickle-cell anemia.What kinds of gametes will the daughter form,and in what proportions?c. If the son in part (a) grows up and marries thedaughter in part (b), what is the probability that achild of theirs will be an albino with sickle-cellanemia?
You have the following DNA coding sequence of a wild-type allele: 5’-ATG TTC CAG CTA GAT GAT ATG CTG GTA ATT GGG GAA CGC GCG CGG TAA-3’ For each of the following mutations: A. State whether the mutation is missense, nonsense, frameshift, or silent. B. Write the codon change that occurs for the missense, nonsense, and silent mutations (ex. GAA -- GAT). C. For frameshift mutations, write out the entire mutant sequence with each codon clearly indicated (if the frameshift creates a new stop codon, end the sequence at the new stop). Using the wild type DNA sequence above as a guide : Write the amino acid sequence of the mutants. Mutant 1: transition at nucleotide 23 Mutant 2: T --> G transversion at nucleotide 29 Mutant 3: an insertion of “A” after nucleotide 14 Mutant 4: transition at nucleotide 7 Mutant 5: An insertion of GG after nucleotide 40 Mutant 6: transition at nucleotide 15 Mutant 7: a deletion of nucleotide 25
Different mutations in the WDR62 gene that inactivate gene function were found in the genomes ofmany different people with microcephaly. This information provided strong support for the idea that theWDR62 gene mutation causes microcephaly.a. The human genome sequence identified WDR62as one of the approximately 27,000 genes in thehuman genome. What information about the functionof WDR62 do you think was learned originallyfrom the DNA sequence of the normal humangenome?b. What additional information was provided byidentification of WDR62 as the microcephalydisease gene?c. The mouse genome contains a gene similar to human WDR62. Experiments in mice have shownthat the mouse WDR62 gene is expressed in thebrain. Technology is now available that allows scientists to generate mice in which the two normalcopies of the WDR62 gene are replaced with mutant copies of the gene that are nonfunctional. Whywould a scientist want to generate such WDR62mutant mice?
The family of a sixth-grade boy in Palo Alto, California, wasinformed by school administrators that he would have to transferout of his middle school because they believed his mutation ofthe CFTR gene, which does not produce any symptoms associatedwith cystic fibrosis, posed a risk to other students at the schoolwho have cystic fibrosis. After missing 11 days of school, a settlementwas reached to have the boy return to school. What ethicalproblems might you associate with this example?
In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?
A gene contains the sequence CGCATACGGTAC that results in the amino acid sequence arg-ile-arg- tyr. A mutation in this gene has a G inserted after the second C in the strand. How will this mutation affect the phenotype? A:This will affect the phenotype because although most of the protein will be identical, the first amino acid will be different. B:This will not affect the phenotype because only the second amino acid is different from the original protein. C:This will not affect the phenotype because the protein will be identical to the original protein. D:This will affect the phenotvpe because all of the amino acids after the first one will be different from he original protein.
Fill up the blank __________s are blood diseases caused by mutationsthat eliminate or reduce the production of globinpolypeptides from one of the clusters but not the other.These mutations can include deletions of specific genesor the LCR in either cluster.
(i) For the chromatogram below, what is the sequence of the template DNA from base 115 to 125? CTGTGTGAAATTGT TA T CCGC T CA CA AT T C CACA CA A CATA CGAGC CGGAAG CA TA A 110 120 130 140 150 160 (ii) An allele of a gene has the following change in it's sequence ATG GTG CÁC CTG ACT CCT GTG GAG AAG TCT compared to the wild type ATG GTG CAC CTG ACT CT GAG GAG AAG TCT With reference to the sequence; there is a codon, resulting in a change from is a mutation in the to which mutation.