【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。更多还原

【Abstract】 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.更多还原