摘要
目的探讨海南汉族Rh阴性献血者的RHD基因结构,为建立适合本群体的正确的RHD基因定型方法提供依据。方法采用常规盐水法和抗球蛋白法筛选RhD阴性献血者,通过吸收放散试验确定其中RhDel,并采用PCR SSP技术分析其RHD基因存在情况,对存在全部外显子的个体进一步检测RHD内含子2、10和RHDψ假基因。结果筛选获得的106名RhD阴性个体中,31例(29.25%)为RhDel,存在完整RHD基因;剩下75例中,67例(63.21%)完全缺失RHD基因,8例缺失部分RHD基因;存在全部外显子的31例RhDel个体均存在RHD内含子2、10而无RHDψ基因。另外,在1例ccdEe样本中检测到外显子1、3、4、6、7、9及10,仅缺少外显子5。结论海南汉族RhD阴性群体中存在高比率的RhDel,且所有RhDel样本均可检测到全部的RHD基因外显子;海南汉族真实RhD阴性个体的RHD基因呈多态性,缺失部分RHD基因的个体均未检测到RHD外显子5,提示对本群体而言,特异性扩增外显子5在RHD基因定型中具有重要意义。
Objective To understand the RHD gene profiles of RhD negative individuals in Hainan Han population,and provide reference to establish the right method for RHD genotyping.Methods RhD was tested by anti-globulin test, and RhDel and genuine RhD-negative phenotype were identified by absorption/elution method. RhD negative samples were further tested for RHD exons by PCR-SSP.The RhD negative samples with intact RHD genes were further analyzed by PCR-SSP for RHD introns 2, 10 and RHDψgene. Results Thirty-one (29.25%)cases of RhDel individuals were identified among 106 apparent RhD-negative individuals. All RhDel samples had RHD genes;67 cases of genuine RhD-negative had no RHD genes and 8 cases were partial D. All 31 RhDel samples had Din2 and Din10 but none had RHDψ. Additionally, We detected exons 1,3,4,6,7,9 and 10 in one case of ccdEe sample. Conclusion The proportion of RhDel phenotype is high among apparent RhD-negative Hainanese, and total RHD exons can be detected in all RhDel samples. Polymorphisms of RHD gene are present among genuine RhD-negative Hainanese. There is no exon 5 in all 8 cases of partial D, which suggests that exon 5 specific amplification may be very important in RHD genotyping for Hainan Han population.
出处
《中国输血杂志》
CAS
CSCD
2005年第2期97-100,共4页
Chinese Journal of Blood Transfusion
基金
海南省自然科学基金资助项目(编号30229)
