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3 Cards in this Set
- Front
- Back
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Genetic rearrangement usually affects who?
What are potential changes in chromosome numbers due to rearrangement? What is Robertsonian translocation? Usually involves which chromosomes? |
offspring of person with rearrangment
too many chromosome arms, an extra chromosome, missing chromosome q arms of acrocentric chromosome fuse; usually 13, 14, 15, 21, 22 |
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Unbalanced Robertsonian translocations lead to what?
What is the characteristic chromosome in Chronic Myelogenous Leukemia? What is the resulting fusion gene? Which gene codes for a nuclear protein tyrosine kinase? |
trisomies
Philadelphia chromosome - t(9;22)(q34;q11) BCR-ABL ABL |
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B-lymphocyte tumor that produces Ab's, 90% of cases involve a t(8;14)(q24;q32) translocation:
What gene is translocated? Where is it moved to? Net effect? Characteristics of endemic Burkitt's? |
Burkitt's lymphoma
c-MYC translocated from chromosome 8 to 14 --> to enhancer region for heavy chain genes; uncontrolled mitosis seen in Africa, associated with EBV, usually affects jaw/maxilla |
