Match each of the following by placing the correct term/phrase next to each item. Consanguineous mating Separation of very large DNA fragments Inbreeding Autosomal dominant disorder Y chromosome Both low and high copy number origins of Marfan's syndrome Yeast Artificial Chromosomes (YACs) P1 Derived Artificial Chromosomes (PACS) Transposable elements Paternal inheritance ◆ ¶ AN

Match each of the following by placing the correct term/phrase next to each item. Consanguineous mating Separation of very large DNA fragments Inbreeding Autosomal dominant disorder Y chromosome Both low and high copy number origins of Marfan's syndrome Yeast Artificial Chromosomes (YACs) P1 Derived Artificial Chromosomes (PACS) Transposable elements Paternal inheritance ◆ ¶ AN

Name: Separation of very large DNA fragments Answer 1InbreedingAnswer 2Au
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Description: Separation of very large DNA fragments Answer 1InbreedingAnswer 2Autosomal dominant disorderAnswer 3Y chromosome Answer 4Both low and high copy number origins of replicationAnswer 5DNA double-helix Answer 6Linear vectorAnswer 7Chain termination D

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

Section: Chapter Questions

Problem 3QP: A colleague e-mails you saying that she has identified an interesting chromosome variation at 21q13....

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A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…
The chromosome 9/22 translocation associated withCML (chronic myelogenous leukemia) is called thePhiladelphia chromosome after the city in which itscancer association was first discovered in 1960.People with CML do not inherit this translocation—it occurs in somatic cells. Why do you think that thisparticular translocation that fuses the bcr and ablgenes happens independently in the somatic cellsof many different people?
The plant Haplopappus gracilis has a 2n of 4. A diploid cellculture was established and, at premitotic S phase, aradioactive nucleotide was added and was incorporatedinto newly synthesized DNA. The cells were then removed from the radioactivity, washed, and allowed to proceed through mitosis. Radioactive chromosomes or chromatids can be detected by placing photographic emulsionon the cells; radioactive chromosomes or chromatids appeared covered with spots of silver from the emulsion.(The chromosomes “take their own photograph.”) Drawthe chromosomes at prophase and telophase of the firstand second mitotic divisions after the radioactive treatment. If they are radioactive, show it in your diagram. Ifthere are several possibilities, show them, too.
Prader-Willi syndrome and Angelman syndrome are both caused by deletion of a set of genes onchromosome 15. The symptoms of Prader-Willi syndrome are short stature, small hands andfeet, hypotonia (floppiness), hypogonadism, mild mental retardation, and an uncontrollabledesire to eat (polyphagia). Angelman syndrome is characterized by an intellectual anddevelopmental delay, sleep disturbances, seizures, hand-flapping and other jerky movements,frequent laughter or smiling, and usually a happy demeanor.Please explain how the deletion of the same set of genes can result in such different diseases. Inyour answer, be sure to discuss the role of genetic imprinting and epigenetics.
Equalizing the Expression of X Chromosome Genes in Males and Females Individuals with an XXY genotype are sterile males. If one X is inactivated early in embryogenesis, the genotype of the individual effectively becomes XY. Why will this individual not develop as a normal male?
Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
A colleague e-mails you saying that she has identified an interesting chromosome variation at 21q13. In discussing this discovery with a friend who is not a cytogeneticist, explain how you would describe this location, defining each term in the chromosome address 21q13.
Like Hurler syndrome, Fabry disease involves an abnormal accumulationof substances within lysosomes. However, the lysosomesof individuals with Fabry disease show an abnormal accumulationof lipids. The defective enzyme is α-galactosidase A, which is alysosomal enzyme that functions in lipid metabolism. The enzymaticdefect causes cell damage, especially to the kidneys, heart,and eyes. The gene that encodes α-galactosidase A is found on theX chromosome. Let’s suppose a phenotypically unaffected coupleproduces two sons with Fabry disease and one phenotypicallyunaffected daughter. What is the probability that the daughter willhave an affected son?
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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?
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