【摘要】 为了解人RHD基因的组合情况 ,进一步研究RHD基因遗传结构和预测新生儿溶血病 ,采用PCR SSP方法 ,设计 4条引物 ,用同一PCR反应条件同时检测人RHD基因的上游、下游和杂交的Rhesus盒。结果显示 :RHD- RHD- 纯合子个体只检出杂交Rhesus盒 ,无上、下游Rhesus盒 ,RHD+ RHD- 杂合子个体能同时检出上、下游和杂交Rhesus盒 ,RHD+ RHD+ 纯合子个体只检出上、下游Rhesus盒 ,无杂交Rhesus盒。 5 0例RhD阳性样本中5例 (10 % )为RHD+ RHD- 型 ,其余 (90 % )均为RHD+ RHD+ 型。 98例无血缘关系RhD阴性汉族人样本中 ,5 4例(5 5 .1% )为RHD- RHD- 纯合子 ,36例 (36 .7% )为RHD+ RHD- 杂合子即RHD基因单体型 (可用于对RHD基因单体型进一步分析 ) ,8例 (8.2 % )为RHD+ RHD+ 纯合子。 2例弱D型样本同时检出上、下游和杂交Rhesus盒 ,为RHD+ RHD- 型。 16例Del型中 10例 (6 2 .5 % )同时检出上、下游和杂交Rhesus盒 ,为RHD+ RHD- 型 ,6例 (37.5 % )只检出上、下游Rhesus盒 ,无杂交Rhesus盒 ,为RHD+ RHD+ 型。这些样本RHD基因 10个外显子的检测结果验证了本方法的正确性。结论 :本方法所需引物少 ,操作简便 ,结果判断直观 ,适合临床应用。在RhD阴性中国汉族人中存在为数不少的RHD无效基因 (非缺失型和部分缺失型占更多还原

【Abstract】 The aim was to determine RHD zygosity, further to investigate genetic structure of RHD gene, and to predict hemolytic disease of newborn (HDN). The upstream box, downstream box, and hybrid box of RHD gene were determined by PCR-SSP with 4 primers under the same conditions. The results showed that only hybrid box could be determined in RHD-/RHD- homozygosity. All the upstream box, downstream box, and hybrid box could be determined in RHD+/RHD- heterozygosity, while upstream box and downstream box except hybrid box could be determined in RHD+/RHD+ homozygosity. Out of 50 cases of RhD(+), 5 cases (10%) were RHD+/RHD- heterozygosity, and the others (90%) were RHD+/RHD+ homozygosity. 54 cases (55.1%), 36 cases (36.7%) and 8 cases (8.2%) were RHD-/RHD- homozygosity, RHD+/RHD- heterozygosity, and RHD+/RHD+ homozygosity respectively in 98 unrela- ted cases of RhD(-) Chinese Hans. 2 cases of weak D were proved to be RHD+/RHD- heterozygosity. Out of 16 D el types, the upstream box, downstream box, and hybrid box could be determined in 10 cases (37.5%) and the upstream box and downstream box except hybrid box could be determined in 6 cases. Results detecting of RHD 10 exons in above samples proved the correctness of the method. It is concluded that the method is suitable for clinical application with its simplicity and veracity. There are many noneffective RHD genes (44.9%) in Chinese Hans with RhD(-) phenotype.更多还原