【摘要】 目的　测定Rh血型D抗原阳性个体的RHD基因数目。方法　采用聚合酶链式反应 限制性片段长度多态性 (PCR RFLP)技术 ,扩增 10名D阳性、5名弱D、2 5名Del表型和 12名携带无效等位基因的Rh阴性个体的RH基因座位下游盒子和融合盒子序列 ,产物经DNA限制性内切酶PstI消化后电泳 ,以 5份经血清学和序列分析基因分型方法确认的D阴性样本作为RHD-/RHD-纯合子对照 ,鉴定RHD+ /RHD+ 或RHD+ /RHD-基因型。结果　 10名D阳性个体均为RHD+ /RHD+ 纯合子、5份弱D样本及 12名携带无效等位基因的Rh阴性个体全部为RHD+ /RHD-杂合型。 2 5名Del表型个体中 9人为RHD+ /RHD+ 纯合型 (36 % ) ,其中 6人Rh表型为DCCee、3人为DCcee ;另 16名Del个体为RHD+ /RHD-杂合型 ,Rh表型均为DCcee。结论　D阳性个体RHD+ /RHD+ 纯合型多见 ,弱D型个体以RHD+ /RHD-杂合型为主 ,在Del表型个体存在高比率的RHD+ /RHD+ 纯合型 ;携带无效等位基因的个体多为RHD+ /RHD-杂合型更多还原

【Abstract】 Objective To determine the numbers of RHD in D antigen positive individuals Methods The downstream and hybrid Rhesus boxes were amplified and the PCR products were digested by Pst I through a PCR RFLP method in 10 D positive,5 weak D,25 D el phenotype donors and 12 nonfunctional RHD allele carriers by taking 5 D negative samples as a RHD -/RHD - control, which were previously tested by serological and sequencing.Results All 10 D positive individuals were detected RHD +/RHD + homozygotes while 5 weak D samples and 12 nonfunctional RHD allele carriers are RHD +/RHD - heterozygotes.Among 25 D el samples, 9 of them (36%) are RHD +/RHD + homozygotes and 6 of 9 are DCCee, 3 of 9 are DCcee.The rest 16 D el samples are RHD +/RHD - heterozygotes and all are DCcee phenotype.Conclusions The RHD +/RHD + homozygote is the major RHD genotype in D positive Chinese while most of the weak D individuals are heterozygous.Furthermore,there is a high rate of RHD +/RHD + genotype in D el individuals,and the nonfunctional RHD allele carriers are mostly RHD +/RHD - heterozygotes更多还原