MOLECULAR ANALYSIS OF CANCER FAMILY SYNDROME

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(1) We showed that BLM protein was expressed strongly in thymus and testis and that BLM protein was not directly involved in Ig VDJ recombination.(2) We showed that the ArgィイD11344ィエD1-SerィイD11345ィエD1-LysィイD11346ィエD1-ArgィイD11347ィエD1 sequence at the C-terminus of the human BLM protein was essential for nuclear localization of this protein.(3) We demonstrated that immunoblot analysis using EBV-transformed or PHA-stimulated lymphoblastas represented a useful approach for laboratory diagnosis for A-T.(4) We demonstrated that ATM is upregulated during the mitogenic response in peripheral blood mononuclear cells.(5) We showed that IVS33 + 2T -> A and 7883del5 were identified in four and five alleles, respectively, in a total of 18 mutant alleles of Japanese A-T patients. These results suggested that these two mutations were relatively common mutations in the Japanese population.