山东临沂地区RhD阴性无偿献血人群中RHD基因变异体的分析

山东大学学报(医学版) ›› 2012, Vol. 50 ›› Issue (8): 112-.

山东临沂地区RhD阴性无偿献血人群中RHD基因变异体的分析

邱少慧1,郭明2

1.临沂市红十字会中心血站输血研究室，山东临沂 276000;
2.中国医学科学院北京协和医学院输血研究所，成都 610081

收稿日期:2012-02-29 出版日期:2012-08-10 发布日期:2012-08-10
作者简介:邱少慧(1964- )，女，主管药师，主要从事输血医学研究
基金资助:
临沂市科技发展计划(卫生专项，201213081)

Analysis on RHD variants among RhD negative voluntary blood
donors in Linyi district of Shandong Province

QIU Shao-hui1, GUO Ming2

1. Transfusion Research Laboratory， Red Cross Blood Station of Linyi City， Linyi 276000， Shandong， China;
2. Institute of Blood Transfusion, Peking Union Medical College, Chinese Academy of
Medical Sciences, Chengdu 610081, China

Received:2012-02-29 Online:2012-08-10 Published:2012-08-10

摘要/Abstract

摘要：

目的探讨临沂地区RhD阴性无偿献血人群RHD基因的变异体及其分子背景。方法 2011年采集24875人份全血，获得RhD初筛阴性标本111例，提取DNA后，采用序列特异性引物-多聚酶链反应(SSPPCR)，进行以下三步实验：① 检测出缺失RHD基因的RhD阴性、DEL1227G＞A突变以及其他变异体；② 鉴定其他变异体的具体类型；③ 对有突变位点未检出型别的变异体进行测序。结果临沂地区无偿献血人群中RhD阴性比例为0.45%，在111例RhD初筛阴性标本中，检测到1～10外显子全缺失76例，2～9外显子缺失9例，845G＞A突变3例，3～6外显子缺失3例，1227G＞A 突变18例，RHD(711DELC) 1例，Dva(Hus)1例。结论临沂地区常规血清学筛查RhD阴性无偿献血人群中RHD基因存在多态性。

关键词: RhD阴性；RHD基因；突变；基因多态性；序列分析

Abstract:

Objective To elucidate the molecular background of RHD gene among RhD negative voluntary blood donors in Linyi district of Shandong province. Methods A total of 24875 blood samples were collected in 2011. Genomic DNA from 111 RhD negative samples were analyzed by Sequence specific primer -polymerase chain reaction (SSPPCR) for three steps: ① to detect RHD-deleted RhD negative samples, DEL1227G＞A mutations and other variants; ② to identify the gene type of other variants; and ③ to perform sequencing procedure for the variants which had mutation sites but the gene type was unable to be identified. Results The proportion of RhD negative blood donors was 0.45% among voluntary blood donation population in Linyi district. In 111 RhD negative samples, there were 76 with deletion of 1-10 exons, 9 with deletion of 2-9 exons, 3 with 845G>A mutation, 3 with deletion of 3-6 exons, 18 with 1227G>A mutation, and 1 with RHD(711DELC), 1 sample with DVa (Hus). Conclusion There are RHD polymorphisms among RhD negative voluntary blood donors in Linyi district.

Key words: RhD negative； RHD gene； Mutation； Gene polymorphism； Sequence analysisRh

中图分类号:

R331.1

邱少慧1,郭明2. 山东临沂地区RhD阴性无偿献血人群中RHD基因变异体的分析[J]. 山东大学学报(医学版), 2012, 50(8): 112-.

QIU Shao-hui1, GUO Ming2. Analysis on RHD variants among RhD negative voluntary blood
donors in Linyi district of Shandong Province[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(8): 112-.

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