中国输血杂志2016，Vol.29Issue(8)：788-790,3.DOI:10.13303/j.cjbt.issn.1004-549x.2016.08.005
D-变异体的分析——附1例报告
A study of a D-variant
摘要
Abstract
Objective To study the genetic background of a D--variant.Methods The D,C,c,E and e antigens were tested by the routine serological methods.A sequence-specific primer PCR (PCR-SSP) method was applied for detection of RHCE genotype.The whole length coding region of RHAG and RHCE was sequenced respectively.Furthermore,the RHD zygosity was also detected with a PCR method.Results The proband sample was determined as D--serologically,but DC-by PCR-SSP.The RHAG coding region sequencing results showed that 10 exons' sequences were consistent with RHAG standard sequence (GenBank NC-000006).There were no mutations observed for Oldeide and Duclos-Like antigens,nor the mutation of 316C ＞ G found in high frequency antigen Duclos.The RHCE sequencing results showed that exons 3,4 and 5 were deleted,and the other sequences were identical with a common RHCE sequence.Since the exons 1 and 2 were RHC se-quences,a RHCE(e)-D(3-5)-CE(e) allele was identified.Family investigation showed that the RHAG sequences of parents and brother were identical to the proband's.The Rh phenotypes of parents were DCCee and DccEE respectively,which was consistent with the PCR-SSP and sequencing results of the father's,but the mother's was DCcEE in genetic test.The brother's was consistent with the proband completely.Combining the zygosity results,the genotypes of parents were DCe/DC-and DcE/DC-,and both the proband's and the brother's were DC-/DC-.Conclusion The RHCE-D(3-5)-CE allele produces the D--variant and inherits stably in the investigated family.关键词
RHCE基因/RHAG基因/PCR-SSP/D-/序列分析Key words
RHAG gene/RHCE gene/PCR-SSP/D-/sequencing分类
临床医学引用本文复制引用
陈文伟,刘圆圆,唐朝晖,易品,黎诚耀,张印则,徐华,邵超鹏..D-变异体的分析——附1例报告[J].中国输血杂志,2016,29(8):788-790,3.基金项目
深圳市科技创新计划(JCYJ2014041470821221,JCYJ20130401110246572 （）
