Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2) |
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| Authors: | Arai, Eiko Ikeuchi, Tatsuro Nakamura, Yusuke |
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| Affiliation: | 1Department of Biochemistry, Cancer Institute 1-37-1 Kami-lkebukuro, Toshima, Tokyo 170 2Department of Genetics, Medical Research Institute, Tokyo Medical and Dental University Tokyo, Japan |
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| Abstract: | We previously described a patient with neurofibromatosis type2 (NF2) who showed a constitutional balanced translocation,t(4; 22). To characterize the breakpoint on chromosome 22 inthis patient in relation to a candidate gene (NF2) responsiblefor NF2, we analyzed DNAs from this patient and her parentsusing parts of NF2 cDNA as probes. Southern analyses and DNAsequencing revealed that the chromosome 22 breakpoint in thispatient lies within the intron between exons 14 and 15 of NF2.The results lend support to the conclusion that NF2 is the generesponsible for the CNS form of neurofibromatosis. |
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