【摘要】 目的研究深圳地区血清学弱D表型献血者RhCcEe表型与RHD基因型特点。方法收集38例献血者血液样本,抗-D抗体(IgM/IgG)检测RhD抗原。采用IgM抗-C、抗-c、抗-E、抗-e抗体检测RhCcEe抗原。利用PCR-SSP方法分析RHD基因10个外显子,必要时对RHD基因的所有外显子进行直接测序。统计学方法分析RhCcEe表型与RHD基因型之间的相关性。结果 38例血清学弱D表型献血者中发现8种已报道的等位基因,RHD*weak partial 15(15/38)、RHD*DEL1(11/38)、RHD*DVI.3(5/38)、RHD*weak D type 61(1/38)、RHD*weak D type 95(1/38)、RHD*DCC(1/38)、RHD*DFR1(1/38)、RHD*weak D type 50(1/38)、RHD*weak partial 15 / RHD*DEL1杂合(1/38)。其中RHD*weak D type 50在中国汉族人群中首次报道。另外,发现了1例新的RHD等位基因RHD*IVS9-1C(c.1228-1G>C)。该等位基因的序列数据已提交GenBank,登记号为MT755965。经相关性分析,RHD*weak partial 15与RhE抗原相关系数为0.727(P<0.01),RHD*DEL1与RhC抗原相关系数为0.645(P<0.01)。结论深圳地区血清学弱D表型献血者的RHD基因结构呈现多态性,主要为RHD*weak partial 15、RHD*DEL1、RHD*DVI.3,并存在其他稀有的基因型;RHD*weak partial 15与RhE抗原、RHD*DEL1与RhC抗原存在显著正相关。更多还原

【Abstract】 Objective To study the RhCE phenotype and RHD genotype of blood donors with weak D phenotype in Shenzhen.Methods Blood samples were collected from 38 donors.The D blood group of these samples was tested using anti-D monoclonal IgM/IgG blood identification reagent.The CE phenotype was identified using monoclonal anti-C,anti-c,anti-E,and anti-e.The 10 exons of RHD gene were analyzed by PCR-SSP.The full length coding region of RHD gene was sequenced if necessary.The correlation between RhCE phenotype and RHD genotype was analyzed.Results Serology results showed that the 38 donors were D variant.In 38 donors,eight RHD alleles have been reported,RHD*weak partial 15(15/38),RHD*DEL1(11/38),RHD*DVI.3(5/38),RHD*weak D type 61(1/38),RHD*weak D type 95(1/38),RHD*DCC(1/38),RHD*DFR1(1/38),RHD*weak D type 50(1/38),RHD*weak partial 15/RHD*DEL1(1/38) were identified.Additionally,RHD*weak D type 50 was not been reported in the Chinese Han individual.Also,one novel RHD*IVS9-1C(c.1228-1G>C) allele were identified.The nucleotide sequence data of the new RHD allele was submitted to GenBank,and was assigned accession number MT755965.The correlation coefficient between RHD*weak partial 15 and RhE antigen was 0.727 (P<0.01).The correlation coefficient between RHD*DEL1 and RhC antigen was 0.645 (P<0.01).Conclusion The molecular background of weak D in Shenzhen is complicated,which mainly includes RHD* Weak Partial 15,RHD*DEL1,RHD*DVI.3,and other rare genotypes.RHD* Weak Partial 15 was associated with RhE antigen and RHD*DEL1 was associated with RhC antigen.更多还原