[Analysis of Genotyping and Polymorphism of 104 RhD Variant Blood Donors in Tianjin].

Q4 Medicine

中国实验血液学杂志 Pub Date : 2026-08-01 DOI:10.19746/j.cnki.issn1009-2137.2026.04.035

Li-Na Wu, Lei Ma, Shuang-Yu Li, Shi-Ping An, Jing-Hui Chong, Yang Yang, Ying Zhao, Xian Huang, Jin-Hui Xie

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Abstract

Objective: To investigate the genotyping and polymorphism of RhD variants in Tianjin region, providing reference for guiding clinical transfusion and partial pregnatal testing.

Methods: Blood samples were collected from donors with serologically weak D phenotypes through laboratory testing from 2021 to 2024 at the Tianjin Blood Center. RHD genotyping was performed by using SSP-PCR. For unresolved genotypes, DNA sequence-based typing (SBT) was applied for gene sequencing.

Results: A total of 104 RhD variants were statistically analyzed, and 72 were successfully indentified by RHD gene typing. Common variants included weak D type 15 (37 cases), DEL 1227A (16 cases), and DVI type (13 cases). Sequencing resolved 32 cases, predominantly weak D type 33. Two novel RHD genotypes not yet cataloged by ISBT were identified: one carried a homozygous 1100T>A mutation in exon 8, and the other showed a homozygous 526G>A mutation in exon 4 of the RHD gene.

Conclusion: RHD exon structures exhibit polymorphism. The predominant RhD variants were weak D type 15, DEL 1227A, and weak D type 33 identified among blood donors in Tianjin.

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天津市104例RhD变异献血者基因分型及多态性分析

目的：了解天津地区RhD变异的基因分型和多态性，为指导临床输血和部分妊娠检测提供参考。方法：2021 - 2024年在天津市血液中心采集血清学弱D型献血者血液标本，进行实验室检测。采用SSP-PCR进行RHD基因分型。对于未解析的基因型，采用DNA序列分型（SBT）进行基因测序。结果：共统计分析RhD变异104个，通过RhD基因分型成功鉴定出72个。常见的变异包括弱D型15（37例）、DEL 1227A（16例）和DVI型（13例）。测序证实32例，以弱D型33为主。两种新的RHD基因型尚未被ISBT编目：一种在RHD基因的第8外显子上携带纯合子1100T> a突变，另一种在RHD基因的第4外显子上携带纯合子526G> a突变。结论：RHD外显子结构具有多态性。天津献血者中主要的RhD变异为弱D 15型、DEL 1227A型和弱D 33型。

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