PS5+09 - Bio D137 Human and Eukaryotic Genetics Prob Set 5...

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Bio D137 Human and Eukaryotic Genetics J.L.Marsh F'09 Prob Set 5 due Oct, 27 Name/student ID:_______________ 1 1 1] Several enzymes and proteins a, b, c, d, e, f are known to be coded in a region near a locus of interest on chromosome 22 in humans, but their order is unknown. Patients with sporadic symptoms were analyzed and karyotyping identified 5 patients with deficiencies (deletions) on this arm of chromosome 22. The level of gene product being expressed was determined using biochemical and immunological techniques. The level of gene activity is indicated below as a percent relative to the activity observed in non-deletion bearing control persons. The genes are: a b c d e f Pt 1 57 101 103 51 46 53 Pt 2 52 98 101 105 51 99 Pt 3 48 52 50 103 49 52 Pt 4 95 98 46 96 52 99 Pt 5 103 51 52 100 57 102 a) Use these data to determine the order of these genes on chromosome 22. b) What gene most likely is responsible for the disease? Keri Reigle, an 8-year-old with chromosome 22q11.12 deletion syndrome, participated in UC Davis research FYI box: The features of 22q11.2 deletion syndrome vary widely, even among affected members of the same family, and involve many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate) or other palate defects, and mild differences in facial features. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system, and some develop autoimmune disorders such as rheumatoid arthritis and Graves' disease. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood
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PS5+09 - Bio D137 Human and Eukaryotic Genetics Prob Set 5...

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