【摘要】 目的通过对临沂地区RhD初筛阴性献血者的研究,了解其分子遗传背景。方法 2011年1月～10月采集无重复54 458人份全血,其中盐水法初筛RhD阴性标本241份。对初筛RhD阴性标本运用本室建立的SSP-PCR作基因检测分型,并对未确定型别携带RHD的标本进行基因测序。结果临沂地区献血人群中RhD阴性比例为0.44%,241例初筛RhD阴性标本检测到1～10外显子全缺失169例,2～9外显子缺失22例,1227G>A突变38例,845G>A突变5例,3～6外显子缺失5例,RHD(711DelC)1例,DVa(Hus)1例。分子生物学试验确定的Del型共38例,占初筛RhD阴性的15.77%(38/241)。结论临沂地区RhD初筛阴性献血人群中RHD基因存在多态性,其中RHD1227A等位基因为临沂地区Del型的遗传标志性基因。更多还原

【Abstract】 Objective To elucidate the molecular background of RhD variant blood donors in Linyi.Methods A total of 54 458 blood samples from random blood donors were collected from January to October in 2011.RhD were tested by saline method,and 241 RhD negative samples.Genomic DNA was extracted from the RhD negative specimens identified by serological testing.RHD genotyping was performed by using polymerase chain reaction with sequence-specific primers(SSP-PCR).Results The RhD negative rate was 0.44%.Among 241 RhD negative samples,there were 169 samples with deletion of 1~10 exons,22 with deletion of 2~9 exons,38 with 1227G>A mutation,5 with 845 G>A mutation,5 with deletion of 3~6 exons,1 with RHD(711DelC),1 with DVa(Hus),A total of 38 Del samples were found using molecularbiology methods,and the positive rate was 15.77%(38/241).Conclusion Among the blood donors of Linyi area,preliminary screening shows RHD gene polymorphism was existed by preliminary screening.The rate of RhDel is an important genetic marker for RhDel phenotype in LinYi,China.更多还原