The gene polymorphism and phenotype of RhD variants among blood donors in Chongqing

Jingyi Liu; Danli Cui; Fang Wang; Meijun LI; Dong Liu; Xiaoyan Xie; Min Chen; Weiyi FU; Dongyan Yang; Qiaolin Zhang

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The gene polymorphism and phenotype of RhD variants among blood donors in Chongqing

VernacularTitle: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
Author: Jingyi LIU ¹ ; Danli CUI ¹ ; Fang WANG ¹ ; Meijun LI ¹ ; Dong LIU ¹ ; Xiaoyan XIE ¹ ; Min CHEN ¹ ; Weiyi FU ² ; Dongyan YANG ¹ ; Qiaolin ZHANG ¹
Author Information

1. Chongqing Blood Center, Chongqing 400015, China
2. Xi ′an Haorui Genomics Technology Company Limited
Publication Type:Journal Article
Keywords: RhD variants; RHD gene; single-molecule real-time sequencing(SMRT); third generation sequencing(TGS); serology; Chongqing
From: Chinese Journal of Blood Transfusion 2024;37(8):879-885
CountryChina
Language:Chinese
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).