中文摘要：

目的探讨汉族、藏族和维吾尔族RHD基因启动子区多态性与RhD阴性机制相关性。方法对476例汉族（200例RhD阳性、228例RhD阴性、6例弱D和42例Del型）、57例藏族（50例RhD阳性和7例RhD阴性）和120例维吾尔族（50例RhD阳性和70例RhD阴性）标本，使用PCR—SSP方法检测RHD基因的Upstream盒、Down—stream盒和hybrid盒，使用PCR—SSP法和多重PCR法检测RHD基因启动子区-1--1246bp内的4个RHD基因多态性位点。结果348例RhD阳性标本（含6例弱D和42例D“型）、76例表型为RhD阴性但RHD基因型为RHD＋／RHD-杂合子和RHD’／RHD’纯合子标本中均检测到4个RHD基因特异性多态性位点；而所有229例表型为RhD阴性基因型为RHD-／RHD-纯合子标本均未检测到RHD基因启动子区多态性位点。结论汉族、藏族和维吾尔族RHD基因启动子区多态性可能与RhD阴性机制无关；本研究所建立的RHD基因启动区4个多态性位点PCR—SSP检测方法可用于RHD基因启动区多态性位点研究。

英文摘要：

Objective To investigate whether promoter polymorphism of RHD gene in Chinese Han,Tibetan and Uigur population was concerned with negative mechanism of RhD. Methods The Upstream box, Downstream box and hybrid box of all the samples,from 476 Hans （200 RhD＋ donors,228 RhD- donors,6 Weak D and 42 Del donors） ,57 Tibetans （50 RhD＋ and 7 RhD- donors） and 120 Uigurs （50 RhD＋ and 70 RhD- donors ） ,were detected with PCR-SSP,as well as 4 polymorphic sites of RHD gene promoter in-1 ~ -1 246 bp range were also detected with PCR-SSP and muhi-PCR. Results 4 polymorphic sites of RHD gene promoter could be detected in all 348 samples with RhD-positive phenotype and 76 RhD- negative samples with RHD＋/RHD- heterozygote and RHD ＋/RHD ＋ homozygote genotypes, while the other 229 RhD- negative samples with RHD-/RHD- homozygote genotypes could not be detected promoter polymorphism of RHD gene. Conclusion Promoter polymorphism of RHD gene may not be concerned with negative mechanism of RhD phenotype in Chinese Han,Tibtan and Uigur population. PCR-SSP method for detecting 4 polymorphic sites of RHD gene promoter was established,which could be used to research on promoter polymorphism of RHD gene.