The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) in a patient with chronic lymphocytic leukemia maps close to the putative promoter region of the DMRT2 gene.
作者： J. Rüssel , U. Dutta , D. Wand , D. Schlote , I. Hansmann
DOI: 10.1159/000227830
关键词:
摘要: B-cell chronic lymphocytic leukemia (B-CLL) is a very common hematological malignancy. Although several alterations in different loci have been identified and established as prognostic factors the pathogenetic cascade remains obscure. Here we give an account on 71-year-old man with B-CLL translocation t(6;9) his diagnostic bone marrow. Subsequent chromosome analysis of blood lymphocytes revealed constitutional karyotype 46,XY,t(6;9) (p12;p24) that has not previously reported. Seeking for gene disruption correlated precisely mapped both breakpoints by fluorescence situ hybridization (FISH) chromosome-specific bacterial artificial (BAC) clones their long-range polymerase chain reaction (LRPCR) subfragments. An 11-kb LRPCR subfragment derived from RP11-399A15 was found to span breakpoint at 6p12.1. FISH 12-kb fragment RP11-147I11 which overlaps RP11-110M16 well cDNA DMRT2 (doublesex mab-3 related transcription factor 2) maps 9p24.3 maximum 10 kb upstream DMRT2. In silico transcripts within vicinity does disrupt any known genes but could affect putative DMRT2promoter. Long range effects expression cannot be excluded so far.
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