An STR on chromosome 9 is immediately adjacent to a gene involved in a dominant blood disorder (only one copy of the mutation is required for the disease). Thus, in a family with a known mutation in the disorder-causing gene, inheritance of the STR can be used to diagnose the disorder. There are four different alleles of the STR (A, B, C and D), each with different numbers of GATCTCG repeats. The A allele has 10 repeats, the B allele has 19 repeats, the Callele has 25 repeats, and the D allele has 13 repeats. Part 1. Lane 1 of the gel shown below indicates the locations of PCR products corresponding to all four STR alleles when run together in one lane. DNA was loaded into the wells at the top of the gel. Lane 1 Janavi Mehmet Prita Kamu Ravi Shreeta List the location of each allele by its letter in order from top (- side of gel) to bottom (+ side of gel). BIUA - A - I E E 3 x' x, E E 14pt Paragraph

An STR on chromosome 9 is immediately adjacent to a gene involved in a dominant blood disorder (only one copy of the mutation is required for the disease). Thus, in a family with a known mutation in the disorder-causing gene, inheritance of the STR can be used to diagnose the disorder. There are four different alleles of the STR (A, B, C and D), each with different numbers of GATCTCG repeats. The A allele has 10 repeats, the B allele has 19 repeats, the Callele has 25 repeats, and the D allele has 13 repeats. Part 1. Lane 1 of the gel shown below indicates the locations of PCR products corresponding to all four STR alleles when run together in one lane. DNA was loaded into the wells at the top of the gel. Lane 1 Janavi Mehmet Prita Kamu Ravi Shreeta List the location of each allele by its letter in order from top (- side of gel) to bottom (+ side of gel). BIUA - A - I E E 3 x' x, E E 14pt Paragraph

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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A normal chromosome A B C D * E F G H I J K has mutated toA B C F E * D G H I J K J K.This is an example of a _________________ chromosomal mutation. ( * denotes the centromere) Group of answer choices Pericentric inversion of DEF and tandem duplication of JK. Pericentric inversion of DEF and displaced duplication of JK Paracentic inversion of DEF and displaced duplication of JK. Paracentric inversion of DEF and tandem duplication of JK.
In an in situ hybridization experiment, a certain clonebound to only the X chromosome in a boy with no diseasesymptoms. However, in a boy with Duchenne musculardystrophy (X-linked recessive disease), it bound to theX chromosome and to an autosome. Explain. Could thisclone be useful in isolating the gene for Duchenne muscular dystrophy?
describe a specific example of chromosome abnormality that leads to human cancers, such as leukemia, other than the Philadelphia chromosome that is derived from the translocation of chromosome 9 and 22
Genes that cause Prader-Willi syndrome and Angelman syndromeare closely linked along chromosome 15. Although people withthese syndromes do not usually reproduce, let’s suppose that acouple produces two children with Angelman syndrome. The oldestchild (named Pat) grows up and has two children with Prader-Willi syndrome. The second child (named Robin) grows up andhas one child with Angelman syndrome.A. Are Pat and Robin’s parents both phenotypically normal ordoes one of them have Angelman or Prader-Willi syndrome? Ifone of them has a disorder, state whether it is the mother or thefather, and explain how you know.B. What are the sexes of Pat and Robin?
Genes that cause Prader-Willi syndrome and Angelman syndromeare closely linked along chromosome 15. Although people withthese syndromes do not usually reproduce, let’s suppose that acouple produces two children with Angelman syndrome. The oldest child (named Pat) grows up and has two children with PraderWilli syndrome. The second child (named Robin) grows up andhas one child with Angelman syndrome.A. Are Pat and Robin’s parents both phenotypically normal ordoes one of them have Angelman or Prader-Willi syndrome? Ifone of them has a disorder, state whether it is the mother or thefather, and explain how you know.B. What are the sexes of Pat and Robin? Explain.
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?
On Neurospora chromosome 4, the leu3 gene is just to theleft of the centromere and always segregates at the firstdivision, whereas the cys2 gene is to the right of the centromere and shows a second-division segregation frequency of 16 percent. In a cross between a leu3 strain anda cys2 strain, calculate the predicted frequencies of thefollowing seven classes of linear tetrads where l = leu3 andc = cys2. (Ignore double and other multiple crossovers.)
If you are comparing the two telomeres in each entryin the following list, in which cases would you expectthe two telomeres always to have exactly the samenumber of TTAGGG repeats?a. One telomere at one end of a chromosome, one telomere at one end of a nonhomologous chromosome.b. One telomere at one end of a chromosome, onetelomere at the corresponding end of the homologous chromosome.
If you are comparing the two telomeres in each entryin the following list, in which cases would you expectthe two telomeres always to have exactly the samenumber of TTAGGG repeats?a. One telomere at one end of a chromosome, one telomere at one end of a nonhomologous chromosome.b. One telomere at one end of a chromosome, onetelomere at the corresponding end of the homologous chromosome.c. One telomere at one end of a chromosome, theother telomere at the other end of the samechromosome.d. One telomere at one end of a chromatid, the othertelomere at the corresponding position in the sisterchromatid.
Many genetic disorders exhibit locus heterogeneity. Define andgive two examples of locus heterogeneity. How does locus heterogeneityconfound a pedigree analysis?
In humans, chromosome 16 sometimes has a heavily stained area in the long arm near the centromere. This feature can be seen through the microscope but has no effect on the phenotype of the person carrying it. When such a “blob” exists on a particular copy of chromosome 16, it is a constant feature of that chromosome and is inherited. A couple conceived a child, but the fetus had multiple abnormalities and was miscarried. When the chromosomes of the fetus were studied, it was discovered that it had three copies of chromosome 16 (it was trisomic for chromosome 16), and that two of the three chromosome 16s had large blobs. Both chromosome 16 homologs in the mother lacked blobs, but the father was heterozygous for blobs. Which parent experienced nondisjunction, and in which meiotic division did it occur?
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