中国输血杂志2024，Vol.37Issue(8)：879-885,7.DOI:10.13303/j.cjbt.issn.1004-549x.2024.08.006
重庆地区RhD变异型无偿献血者的基因多态性及其表型研究
The gene polymorphism and phenotype of RhD variants among blood donors in Chongqing
摘要
Abstract
Objective To conduct Rh blood group serological testing and third-generation sequencing(TGS)on 22 RhD variant voluntary blood donors in Chongqing and explore the phenotypic distribution and genotyping of RhD variants in Chongqing.Methods From January to August 2023,individuals who participated in blood donation in our blood center were selected as the study objects.RhD variant phenotype identification was performed using routine serological methods.Once the RhD variants were identified,tests on different antigenic epitopes of RhD were conducted using a D-screen assay kit.Furthermore,after the genomic DNA from 22 RhD variant blood samples was extracted,imbraided primers design and multi-segment amplification and splicing were used to sequence the full-length RHD gene for TGS.The RHD gene sequence was analyzed using SnapGene software.Results Among the 22 RhD variants,8 were DVI type 3(36.36%),with the main mutation of RHD-CE(3-6)-D hybrid allele.Six cases(27.27%)showed partial weak D15 type,with the main mutation of c.845G>A.There were 6 cases of Asia type Del(27.27%),with the main mutation of c.1227G>A.One case was weak D17 type with a mutation of c.340C>T and 1 case speculated to be partial D(c.491A>T,p.Asp164Val,missense mutation).Conclusion The most common RhD variant phenotype among blood donors in Chongqing is DVI type 3,and the full-length haplotype sequence of RHD variant alleles can be obtained by Pacific Bioscience single-molecule real-time sequencing(SMRT).关键词
RhD变异型/RHD基因/SMRT/三代测序技术/血清学/重庆Key words
RhD variants/RHD gene/single-molecule real-time sequencing(SMRT)/third generation sequencing(TGS)/serology/Chongqing分类
生物学引用本文复制引用
刘静怡,张巧琳,崔丹荔,王芳,黎美君,刘东,谢晓艳,陈敏,付威义,杨冬燕..重庆地区RhD变异型无偿献血者的基因多态性及其表型研究[J].中国输血杂志,2024,37(8):879-885,7.基金项目
重庆市科卫联合医学科研项目(2023QNXM042) （2023QNXM042）
重庆市九龙坡区科技计划项目(2022-02-018-Y) （2022-02-018-Y）
重庆市卫生健康委医学科研项目(2024WSJK033) （2024WSJK033）
