【摘要】 目的　探讨 Rh阴性个体的分子基础。方法　对 1 999年 6月～ 2 0 0 2年 5月共 83 72 2名首次献血者 ,应用血清学方法检测样本 Rh表型 ,对部分 Rh阴性、弱 D表型的 RHD基因编码区全长进行序列分析 ,并应用限制性片段长度多态性( RFLP)技术或双管 PCR法分析 Rh D基因型。结果　中国人 Rh阴性率 ( IAT检测 )为 0 .3 % ;弱 D表型个体 (包括弱 D型、部分D型和其他弱 D形式 )概率约 0 .1‰ ;在 IAT确认的 Rh阴性者中 ,RHD基因检出率为 3 6.0 % ,D放散型 ( Del)占 2 4.3 %。 Del个体以 RHD1 2 2 7A等位基因为主 ,纯合子占 3 3 .3 % ( 9/2 7) ;表型为 CCee的 Del个体占 2 2 .2 % ( 6/2 7) ,均为纯合子。在真实 Rh D阴性个体 (吸收放散试验排除 Del个体 )中 ,RHD基因检出率为 1 5 .5 % ,以携带 RHD-CE( 2 -9) -D2 等位基因为主 (占真实 Rh D阴性个体的 1 1 .9% )。另外 ,在 IAT确认的 Rh阴性者中 ,如果排除无效基因携带者 ,E抗原的频率仅为 0 .0 1 8%。结论　中国人 Rh D阴性者的分子背景复杂 ,且与高加索人和非洲黑人存在较大差异 ,高频率的 Del表型个体和 RHD-CE( 2 -9) -D2 等位基因携带者是中国人群 Rh阴性个体分子背景的特点。更多还原

【Abstract】 Objective To study molecular background of RhD negative individuals. Methods The Rh phenotypes were determined by serological tests in 83 722 donors for the first time in Shenzhen during June of 1999 to May of 2002.In some of them,the full length coding region of RHD gene was sequenced according to a published method.Furthermore,the RhD zygosity was also identified by restriction fragment length polymorphism(RFLP) of dual-tube PCR method. Results The rate of RhD negative(determined by indirect antiglobuoin test,IAT) in Chinese was 0.3%,rate of weak D phenotype(including weak D,partial D and others) was 0.1‰.Among D-negative donors detemined by IAT,RHD gene could be detected at a rate of 36.0%,including 24.3% D el individuals.All D el individuals carried RHD 1277A allele,with 33 3% homozygote and 22.2% CCee(6/27),all of them were homozygotes.In truly RhD negative(identified by absorption/elution test) donors,15 5% possessed total or part of RHD gene which mainly were RHD-CE(2-9)-D 2allele(11 9% in truly RhD individuals).Among D-negative donors determined by IAT,the rate of E antigen was only 0 018% after excluding nonfunctional RHD carriers. Conclusion The molecular background of RhD negative in Chinese is complicated and quite different from which of Caucasian and African blacks.High rate of D el and RHD-CE(2-9)-D 2alleles are characteristics of the RhD negative Chinese.更多还原