ANALYSIS OF GENE ENCODING THE HUMAN N-METHYL-D-ASPARTATE RECEPTOR (NMDAR1) IN SCHIZOPHRENICS

作为初步研究，在正常日本人中调查编码人N-甲基-D-天冬氨酸受体（NMDAR 1）的基因中是否存在突变。受试者为32名日本正常志愿者，其中男性18名，女性14名。已有报道，在正常欧洲人和美国人中编码人NMDAR 1的基因中存在两个部分的突变（外显子21的12694和外显子7的6254）。在本研究中，已经知道的突变的存在下，在这两个部分分别进行了检查与PCR-RFLP方法在正常的日本人。结果，在两个部分中均未检测到突变。然而，在两个部分中的一个（外显子21中的12694）中，PCR后用限制性内切酶处理最终产生的DNA条带的长度远远超出了我们从已知报道中的预期。另一部分（外显子7的6254）经限制性内切酶酶切后的DNA条带长度较短，艾德认为日本人编码NMDAR 1的基因不存在突变或突变频率很低。因此，对NMDAR 1编码基因的突变分析在果蝇研究中似乎并不合适。此外，作为PCR-RFLP诱导产物的DNA条带长度的差异被推测是由于日本人和Weaterners之间的种族差异。

As a preliminary study, it was investigated in normal Japanese whether there was a mutation in the gene encoding the human N-methyl-D-aspartate receptor (NMDAR1) or not. Subjects were 32 normal volunteers of Japanese, who consisted of 18 males and 14 females. It has been alr eady reported that there are two portions showing a mutation in the gene encoding the human NMDAR1 in normal Eur opeans and Americans (12694 in exon 21 and 6254 in exon 7). In the present study, the existence of the already-known mutation in the two portions was separately examined with PCR-RFLP methods in the nor mal Japanese. As a result, no mutation was detected in either of the two portions. However, in one of the two portions (12694 in exon 21), the length of DNA band finally produced with restriction endonuclease treatment following PCR was long beyond our expectations from the already-known report. Futher, in another portion (6254 in exon 7), the length of DNA band after restriction endonuclease treatment was short against our expectations.It was consider ed that the mutation in the gene encoding NMDAR1 was absent in Japanese or existed only in a much low frequency. There fore, it seemed that the analysis of mutation in the gene encoding NMDAR1 was not appropriate in schizophr enia research. Further, the difference in the length of DNA band as the PCR-RFLP-induced products was presumed to be due to the racial difference between Japanese and Weaterners.