先证者为Rh阴性汉族家系RHD基因遗传方式研究

Study on genetic modes of Rh gene in RHD negative pedigrees

目的分析先证者为Rh阴性家系的RHD基因结构特征,了解Rh血型的基因遗传方式,探讨RHD基因组合和Rhesus盒子(Rh盒子)检测预测新生儿溶血病的意义。方法采用PCRSSP方法对3例汉族Rh阴性家系的19份样本进行了RHD基因10个外显子的上游Rh盒子、下游Rh盒子和融合Rh盒子检测。结果基因型为RHD-/RHD-个体检测到融合Rh盒子,无上下游Rh盒子;基因型为RHD+/RHD+个体检测到上下游Rh盒子,无融合Rh盒子;基因型为RHD+/ RHD-的个体可同时检测到上下游Rh盒子和融合Rh盒子。结论用PCR-SSP方法进行家系RHD基因结构分析,操作简便直观。本研究证实在Rh阴性家系中存在着非表达的RHD基因,其遗传方式呈单倍型遗传,符合孟德尔遗传规律。

Objective To investigate structural feature of RHD gene in Rh negative pedigrees, find out the genetic modes of Rh blood group, and to explore the significance of the detection for RHD gene assortment and Rhesus box in the prediction of hemolytic disease of the newborn. Methods Sequence specific primer PCR （PCR-SSP） was applied to detecting the upstream, downstream, hybrid Rhesus boxes and 10 exons of RHD gene in 19 samples from 3 Rh negative pedigrees. Results Only hybrid Rhesus box was detected in individuals with RHD-/RHD- homozygosity; upstream box and downstream box were detected in individuals with RHD＋/RHD＋ homozygosity and while up stream, downstream and hybrid boxes were all detected in individuals with RHD＋/RHD- heterozygosity. Conclusion It＇s easy to analyze the structures of RHD gene in pedigrees with PCR-SSP. It is proved that there exists non-expressed RHD gene, which inherit in haplotype mode and accords with Mendelian inheritance＇s law.