Kondo I, Kanazawa I
Department of Human Ecology, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
Adv Neurol. 1993;60:338-42.
The relationship between the genotypes of Xba I and Bam H I restriction fragment length polymorphisms (RFLPs) at a gene for debrisoquine hydroxylase (CYP2D6) and phenotypes of the metabolic function of debrisoquine/sparteine, the EM and the PM in a healthy Japanese population was investigated. The genotypes of Xba I 11.5 kb and Xba I 44 kb-Bam H I 2.3 kb- were responsible for the Japanese PM. Genotype of Xba I RFLP at CYP2D6 locus was analyzed in 43 healthy individuals and 51 patients with IDP. The relative risk of IDP was 2.15 times more for individuals with the Xba I 44 kb allele compared to those without the allele (chi 2 = 4.149, d.f. = 1, p < 0.05) and it was 6.32 times greater for the Xba I 44 kb homozygotes than the Xba I 29 kb homozygotes (chi 2 = 4.935, d.f. = 1, p < 0.05). These data suggest that the PM for debrisoquine/sparteine hydroxylase might be one of the genetic factors making humans susceptible to IDP acquisition.
研究了健康日本人群中异喹胍羟化酶（CYP2D6）基因的Xba I和Bam H I限制性片段长度多态性（RFLP）基因型与异喹胍/司巴丁代谢功能表型、快代谢型（EM）和慢代谢型（PM）之间的关系。Xba I 11.5 kb和Xba I 44 kb - Bam H I 2.3 kb的基因型与日本人群中的慢代谢型有关。对43名健康个体和51名原发性免疫缺陷病（IDP）患者进行了CYP2D6位点Xba I RFLP基因型分析。与无Xba I 44 kb等位基因的个体相比，携带该等位基因的个体患IDP的相对风险高2.15倍（χ2 = 4.149，自由度 = 1，p < 0.05），Xba I 44 kb纯合子患IDP的风险比Xba I 29 kb纯合子高6.32倍（χ2 = 4.935，自由度 = 1，p < 0.05）。这些数据表明，异喹胍/司巴丁羟化酶的慢代谢型可能是使人类易患IDP的遗传因素之一。
