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© 1994 Oxford University Press

OTHER

Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)

Eiko Arai1,2, Tatsuro Ikeuchi2 and Yusuke Nakamura1,*

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

*To whom correspondence should be addressed

Received February 10, 1994; Revised April 6, 1994; Accepted April 6, 1994

We previously described a patient with neurofibromatosis type 2 (NF2) who showed a constitutional balanced translocation, t(4; 22). To characterize the breakpoint on chromosome 22 in this patient in relation to a candidate gene (NF2) responsible for NF2, we analyzed DNAs from this patient and her parents using parts of NF2 cDNA as probes. Southern analyses and DNA sequencing revealed that the chromosome 22 breakpoint in this patient lies within the intron between exons 14 and 15 of NF2. The results lend support to the conclusion that NF2 is the gene responsible for the CNS form of neurofibromatosis.


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