洛阳地区回族人群RHD基因Rhesus boxes研究

The study of RHD gene Rhesus boxes in Hui ethnic population in Luoyang

目的探讨洛阳地区回族人群RHD基因Rhesus boxes特征,并判定RHD杂合性。方法收集洛阳地区不同RhD表型的回族献血者血液492例,应用PCR-SSP技术检测RHD基因Rhesus boxes。结果在425例D阳性标本中,同时检出Up box和Down box标本有352例(82.82%),为RHD+/RHD+纯合子;同时检出Hybrid、Up及Down box标本有73例(17.18%),为RHD+/RHD-杂合子。在弱D和Del标本中,同时检出Up box和Down box标本数分别为4例(44.44%)和4例(25.00%),同时检测到Hybrid、Up及Down box标本数分别为5例(55.56%)和12例(75.00%),未能单独检测出杂交Rhesus box。在42例RhD阴性标本中,同时检测到Hybrid、Up及Down box标本有3例(7.14%),仅检出Hybrid box标本有39例(92.86%),未能同时检测出Up box和Down box。结论洛阳地区回族人群中RHD基因Rhesus boxes具有独特的分布特征,应用Rhesus boxes来确定RHD基因杂合性在临床输血和产前预防RhD新生儿溶血病有重要意义。

Objective To investigate the Rhesus boxes in RHD gene in Hui ethnic populations in Luoyang;to determine the RHD zygosity. Methods 492 samples of different RhD phenotype were collected from Hui donors in Luoyang. The pulymerase chain reaction-sequence specific primer （PCR-SSP） was applied to detect the Rhesus boxes in RHD. Results In 425 RhD positive samples,352（82.82% ） samples in which Up box and Down box could be detected simultaneously were RHD ＋/RttD ＋ homozygous ;73 （ 17.18% ） samples in which Hybrid box, Up box and Down box could be detected simultaneously were RHD ＋/RHD - heterozygous. Among the weak D and Rh D^l types,the Up box and Down box could be detected simul- taneously in 4（44.44% ） and 4（25.00% ） samples,respectively;the Hybrid box,Up box and Down box could be detected simultaneously in 5 （55.56%） and 12（75.00% ） samples ,respectively. The Hybrid box could not be detected in all weak D and RhDel samples separately. Among 42 RhD negative samples, the Hybrid box, Up box and Down box could be detected simultaneously in 3（7.14% ） samples. The Hybrid box could be detected in 39（92.86% ） separately,but the Up and Down box could not be detected simultaneously in all 42 RhD negative samples. Conclusion Hui populations in Luoyang have a unique distribution in their Rhesus boxes in RHD gene. The Rhesus boxes should be used to determine the RHD zygesity which are important for clinical transfusions and the prenatal prophylaxis of RhD hemolytic disease of the newborn.