河南省部分RhD(一)献血者RhD基因多态性分析

Polymorphism of RhD gene in RhD-negative blood donors in Henan Province

目的 :探讨RhD(- )本省无关供血者中RhD基因的构成情况。方法 :采用PCR SSP法对 80名常规血清学RhD(- )本省供血者RhD基因外显子 2、3、4、5、6、7、9、10和内含子 4及RhCE基因内含子 4的特异性片段进行扩增。结果 :80名RhD(- )供血者中RhD基因完全缺失 5 3例 ,占 6 6 .2 % ;RhD基因部分缺失 7例 ,占 8.7% ,其中大部分为 3～ 9外显子缺失 ;RhD基因完整存在 2 0例 ,占 2 5 %。结论 :本省常规血清学RhD(- )无关供血者RhD基因存在高度多态性 ,提示本省人群RhD(- )特征有多种遗传机制 ,目前在白种人群中使用的DNA鉴定Rh血型的方法不适合我国人群 。

Aim: To explore the characteristics of RhD gene structure among RhD negative unrelated blood donors in Henan Province. Methods:PCR SSP was used to amplify RhD gene exons 2,3,4,5,6,7,9,10 and intron 4 as well as RhCE gene intron 4 in 80 RhD negative blood donors which were determined by routine serological method. Results:Out of 80 RhD negative blood donors, 53(66.2%) cases were complete RhD gene deletion,7(8.7%) cases were partial RhD gene deletion, of which most were RhD gene exon 3～9 deletion and 21 cases carried the intact RhD gene(25%). Conclusions: The results suggest that there are multiple genetic mechanisms to generate RhD negative trait for people in Henan Province. To identify Rh types by using DNA analysis in white people is not fit for Chinese people.It is necessary to develop clinical testing method suitable for Chinese pelple.