发现RhD阴性无效等位基因1例

目的鉴定1例疑似新的RHD无效等位基因引起的RhD阴性个体的分子背景。方法采用血清学吸收放散试验以及序列特异性引物PCR(PCR-SSP)法检测RhD阴性样本,对1例真实D阴性且存在RHD基因全长编码序列的个体,通过基因测序法进行分析鉴定。结果该例样本血清学表型为RhCcdee,其RHD基因第615-616位存在CA两个碱基缺失(RHD615-616delCA),由于框移突变造成第316位氨基酸时形成终止密码子。该基因序列已提交至Genbank,登录号为GQ289585。结论使用基因序列分析法鉴定出1例新的RHD无效等位基因。

Identification of a Nonfunctional RHD Allele

Objective To investigate the molecular background of a RhD-negative donor and identify the newly-like nonfunctional RHD allele.Methods A RhD-negative phenotype was screened out through utilizing the methods of adsorption-elution and PCR-SSP designed to amplify the RHD specific exons and flanking regions.All the exons of complete coding gene were directly sequenced to determine the molecular basis.Results The case was RhCcdee phenotype and had a nonfunctional RHD gene.Two nucleotides CA deletion in position 615-616nt at the 4th exon might cause a series of changes of the encoded amino acid and lead to a frameshift introducing a premature stop codon,leading to a truncated 315aa protein.The RHD allele was submitted for registration in GenBank（GQ289585）.Conclusion Aamorph allelic RHD gene was identified through sequencing analysis method.