[1]陈勇高a,吴少梅a,易　冰b.广东省中山地区临床初检RhD阴性人群中D变异体分布及特征分析[J].现代检验医学杂志,2022,37(03):152-156.[doi:10.3969/j.issn.1671-7414.2022.03.032]
　CHEN Yong-gaoa,WU Shao-meia,YI Bingb.Distribution and Characteristic Analysis of RhD Variants from Preliminary Screening RhD Negative Population in Zhongshan District, Guangdong Province[J].Journal of Modern Laboratory Medicine,2022,37(03):152-156.[doi:10.3969/j.issn.1671-7414.2022.03.032]
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广东省中山地区临床初检RhD阴性人群中D变异体分布及特征分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第37卷
期数:
2022年03期
页码:
152-156
栏目:
研究简报·实验技术
出版日期:
2022-05-15

文章信息/Info

Title:
Distribution and Characteristic Analysis of RhD Variants from Preliminary Screening RhD Negative Population in Zhongshan District, Guangdong Province
文章编号:
1671-7414（2022）03-152-05
作者:
陈勇高a; 吴少梅a; 易　冰b
( 中山市人民医院a. 输血科；b. 分子诊断中心，广东中山 528400)
Author(s):
CHEN Yong-gaoa;  WU Shao-meia;  YI Bingb
(a.Department of Blood Transfusion；b. Department of Molecular Diagnosis Center, Zhongshan People’s Hospital, Guangdong Zhongshan 528400，China)
关键词:
关键字：RhD 阴性; D 变异体; 弱D 表型; 部分D 表型; Del 表型
分类号:
R457.11
DOI:
10.3969/j.issn.1671-7414.2022.03.032
文献标志码:
A
摘要:
目的　研究分析中山地区初检 RhD阴性人群中 D变异体血清学和基因分型特征。方法　研究共收集 2017年 12月～ 2019年 2月中山市人民医院门诊及住院病人的血液样本 24 286例，采用微柱凝胶卡法对其中 RhD阴性样本进行初筛；再经间接抗人球蛋白试验（ indirect antiglobulin test, IAT）确认弱 D或部分 D变异型；然后用吸收放散试验对剩余样本进行 Del表型筛选。同时，通过聚合酶链反应 -序列特异性引物（ polymerase chain reaction-sequence speci.c primmer, PCR-SSP）技术对初筛 RhD阴性的样本进行 RHD等位基因分型以及血清学方法对初筛阴性样本进行 C, c, E和 e抗原表型的检测。结果　在 24 286例血液样本中初筛共检出 102例阴性样本，中山地区初检阴性比例约为 0.42%。经 IAT确认试验共鉴定出 7例弱 D或部分 D血液样本（ 6.86%），且基因型表现多样，但未见亚洲地区常见的弱 D15和弱 D12表型。接下来的放散试验检测出 25例 Del型，通过 PCR-SSP基因分型技术又检出 3例漏检的 Del型，Del型在初检阴性样本中占比 27.45%，PCR-SSP结果显示该研究中所有 Del型血液样本等位基因均为 RHD1227A。该研究纳入的 102例初检阴性血液样本的 RhCcEe表型分布符合 Hardy-Weinberg遗传平衡 (χ2=2.625，P>0.05)，表示相应等位基因所占比例在遗传中保持不变。在 Del型变异体中，除 Ccee和 CCee表型外，未见其他表型。结论　中山地区人群 RhD变异体有丰富的类型和不同分子机制，其中 Del型占比较高，血清学与基因分型结合可提高 D变异体的鉴定能力，防止漏检情况的发生。
Abstract:
Objective　To study serological and genotyping characteristics of RhD gene variants among RhD-negative group in Zhongshan area. Methods 　Applying miro column gel type card to screen Rh-D-negative samples among 24 286 persontime from December 2017 to February 2019 in Zhongshan People’s Hospital. Then, using indirect anti-globulin method (IAT) to identify partial D phenotype or weak D phenotype, and conducting adsorption and elution test to discern Del phenotype among the above RhD-negative-identified samples. Polymerase chain reaction sequence specific primmer(PCR-SSP) technology was used to analyze RhD-negative samples alleles and RhCcEe phenotype. Results　 Among the 24 286 blood samples, 102 negative samples were initially screened bygelcardsand the proportion of negative samples was about 0.42%. The IAT confirmation test identified 7 cases of weak D or partial D (6.86%), genotypes were diverse, but weak D15 and weak D12 commonly seen in Asia were not seen. Then performed absorption and release tests on the remaining negative samples to confirm 25 cases of Del variants. PCR-SSP genotyping technology avoided the missed detection of the other 3 cases of Del variants. The Del type accounted for 27.45%, and the genotyping results showed that all the alleles of the Del type blood samples in this study were RHD1227A. In this study, the RhCcEe phenotype distribution of 102 initial negative samples was consistent with Hardy- Weinberg genetic balance (χ2=2.625，P>0.05), indicating that the corresponding allele ratio remained unchanged in inheritance. However, among Del variants, only CCee and Ccee phenotype were observed, and no other phenotypes were found. Conclusion　D variants population in Zhongshan area population were various types and in different genetic background. The combination of serology and genotyping can improve the diagnostic ability of RHD variants.

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备注/Memo

备注/Memo:
基金项目：中山市社会发展攻关计划项目（2017B1057）。
作者简介：陈勇高（1976-），男，本科，副主任技师，主要从事输血相关工作，E-mail：chenyonggao1976@126.com。
更新日期/Last Update: 1900-01-01