在中国人群中首次发现1例Rh血型弱D12型  

A weak D type 12 found in the Chinese

作　　者：孙国栋[1] 景海珍[2] 熊文[3] 张彦平[1] 尹志柱 牛小利 邵超鹏[3] 李艳凤[4] 段现民 赵有良[1] 牛海江 

机构地区：[1]邯郸市中心血站,河北邯郸056001 [2]邯郸市中心医院 [3]深圳市输血医学研究所 [4]河北省委党校卫生所

出　　处：《中国输血杂志》2006年第1期14-17,共4页Chinese Journal of Blood Transfusion

摘　　要：目的分析鉴定1名RhD抗原弱阳性个体的血型血清学表型及分子背景。方法采用常规血型血清学技术检测Rh D、C、c、E、e抗原表型;采用序列特异性引物-聚合酶链反应(SSP-PCR)方法同时检测RHD基因和RHCE基因,并测序分析RHD基因全长编码区序列;同时通过特异性PCR技术测定RHD合子型或RHD基因数目。结果血型血清学试验证实该标本为D抗原弱阳性表型,与相应Rh抗血清反应为C-c+E+e+;SSP-PCR检测显示RhCcEe基因定型结果与血型血清学完全一致,且有完整的RHD基因;但RHD基因全长编码区序列分析发现该标本的RHD第6外显子存在1处碱基突变:830G>A,编码区序列其它部分与正常RHD序列相同;RHD杂合性试验鉴定显示为RHD+/RHD-杂合型,推测该个体基因型可能为DcE/dce。结论对照国内外文献报道和GenBank记录的基因序列,该个例为在中国人群中首次发现的弱D12型。Objective To study the molecular genetic basis and blood group serological phenotype of weak D type 12 individual. Methods Sample was identified by blood group serological tests and genotyped by sequence specific primer-PCR（SSP-PCR）method. Rh gene was sequenced to detect the changes of ten RHD Exons. The numbers of RHD were detected through SSP-PCR. Results This sample was identified as weak D phenotype （D＋C c＋ E＋e ＋） by blood group serological tests, which were confirmed by genotype results of PCR-SSP. The sequencing result showed a gene mutation of 830G〉A occurring at exon 6 of RHD , and the point mutation changed the amino acid G277E of the RhD polypeptide. The zygosity test showed a RHD ＋/RHD - heterozygote. Conclusion We present the first case of a weak D type 12 in the Chinese.

关 键 词：RH血型 弱D型 RHD基因 RHCE基因 基因突变 序列分析 SSP-PCR 

分 类 号：R457.11[医药卫生—治疗学]