临床输血与检验2012，Vol.14Issue(2)：128-131,4.DOI:10.3969/j.issn.1671-2587.2012.02.011
发现RhD阴性无效等位基因1例
Identification of a Nonfunctional RHD Allele
李敏 1吕蓉 1吴学忠 1李素萍 1王伦善 1於娟 1刘忠1
作者信息
- 1. 230031 合肥,安徽省血液中心,合肥市中心血站
- 折叠
摘要
Abstract
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 adsorp-tion-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.关键词
RhD阴性/RHD基因/序列分析/无效等位基因Key words
RhD-negative RHD gene Sequencing analysis Amorph allelic gene分类
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李敏,吕蓉,吴学忠,李素萍,王伦善,於娟,刘忠..发现RhD阴性无效等位基因1例[J].临床输血与检验,2012,14(2):128-131,4.
