PS9-11 - Bio D137 Human and Eukaryotic Genetics J.L.Marsh...

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Unformatted text preview: Bio D137 Human and Eukaryotic Genetics J.L.Marsh F'11 Prob Set 9 due MONDAY, DEC 5 by 4pm Name/student ID:_______________ 1 1 1] Robinow Syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation and is often called fetal face syndrome (shown in Fig 1). Both dominant and recessive forms exist and it has been proposed that the dominant forms may be associated with unique alleles of a gene in the 9q22 region. The family of the woman shown in fig 1 is segregating a fully penetrant dominant form of Robinow syndrome. We wish to map the responsible allele. Two HVRs (HyperVariableRegion) were analyzed in this womans family. HVR-A is located @ 9q21.13 and HVR B @ 9q22.32. Please analyze the pattern of inheritance shown below for each HVR marker. Figure 1. Age 19 years. http://www.robinow.org/photos/28.html Map of chromosome 9 A] Is HVR A @ 9q21.13 linked to this disease and if so, what would you estimate the map distance between them to be and what are the parental linkage relationships in person #1? Please explain your work. Bio D137 Human and Eukaryotic Genetics J.L.Marsh F'11 Prob Set 9 due MONDAY, DEC 5 by 4pm Name/student ID:_______________ 2 2 B] Is HVR B @ 9q22.32 linked to this disease and if so, what would you estimate the map distance between them to be and what are the parental linkage relationships in person #1? Please explain your work. C] What HVR probe is the best diagnostic for Robinow Syndrome? Patient #22 has developed a malignant tumor and the DNA pattern from the patients normal tissue vs the pattern from the Tumor (T 22 ) is shown. D] What is the term used to describe the event that has occurred and is often associated with tumor formation? E] Describe 3 mechanisms that are able to give rise to loss of DNA markers in cancer. Can any of these be ruled out by the data presented here? If so, which and what argument can you mount to convince a person of that your conclusion is compelling? Bio D137 Human and Eukaryotic Genetics J.L.Marsh F'11 Prob Set 9 due MONDAY, DEC 5 by 4pm Name/student ID:_______________ 3 3 [2] Hemophilia is a recessive trait. The sister (II-1) of the boy with hemophilia (II-2) will be [2] Hemophilia is a recessive trait....
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PS9-11 - Bio D137 Human and Eukaryotic Genetics J.L.Marsh...

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