38例血清学弱D表型献血者RhCcEe表型与RHD基因型检测情况分析*

doi:10.3969/j.issn.1671-2587.2021.05.018

临床输血与检验 ›› 2021, Vol. 23 ›› Issue (5): 632-638.DOI: 10.3969/j.issn.1671-2587.2021.05.018

38例血清学弱D表型献血者RhCcEe表型与RHD基因型检测情况分析^*

吴凡, 梁爽, 彭龙, 苏宇清, 梁延连, 庄乃保

518000 深圳市血液中心

收稿日期:2021-03-26 发布日期:2021-10-20
通讯作者: 庄乃保,男,副主任技师,主要从事输血医学相关工作,（E-mail）zgneighber@126.com。
作者简介:吴凡（1982-）,女,副主任技师,硕士,主要从事红细胞、血小板相关检测研究工作,（E-mail）fancy_32fan@126.com。
基金资助:
*本课题受广东省医学科学技术研究基金项目（No.A2020511）; 深圳市医疗卫生三名工程项目（No.SZSM201811092）; 深圳市医学重点学科建设（No.SZXK070）资助

RhCE Phenotyping and RHD Genotyping for 38 Blood Donors with weak D Phenotype

WU Fan, LIANG Shuang, PENG Long, et al

Shenzhen Blood Center, Shenzhen 518035

Received:2021-03-26 Published:2021-10-20

摘要/Abstract

摘要： 目的研究深圳地区血清学弱D表型献血者RhCcEe表型与RHD基因型特点。方法收集38例献血者血液样本,抗-D抗体（IgM/IgG）检测RhD抗原。采用IgM抗-C、抗-c、抗-E、抗-e抗体检测RhCcEe抗原。利用PCR-SSP方法分析RHD基因10个外显子,必要时对RHD基因的所有外显子进行直接测序。统计学方法分析RhCcEe表型与RHD基因型之间的相关性。结果 38例血清学弱D表型献血者中发现8种已报道的等位基因,RHD*weak partial 15（15/38）、RHD*DEL1（11/38）、RHD*DVI.3（5/38）、RHD*weak D type 61（1/38）、RHD*weak D type 95（1/38）、RHD*DCC（1/38）、RHD*DFR1（1/38）、RHD*weak D type 50（1/38）、RHD*weak partial 15 / RHD*DEL1杂合（1/38）。其中RHD*weak D type 50在中国汉族人群中首次报道。另外,发现了1例新的RHD等位基因RHD*IVS9-1C（c.1228-1G>C）。该等位基因的序列数据已提交GenBank,登记号为MT755965。经相关性分析,RHD*weak partial 15与RhE抗原相关系数为0.727（P<0.01）,RHD*DEL1与RhC抗原相关系数为0.645（P<0.01）。结论深圳地区血清学弱D表型献血者的RHD基因结构呈现多态性,主要为RHD*weak partial 15、RHD*DEL1、RHD*DVI.3,并存在其他稀有的基因型;RHD*weak partial 15与RhE抗原、RHD*DEL1与RhC抗原存在显著正相关。

关键词: Rh血型, RHD基因, D变异型, 相关性分析

Abstract: Objective To study the RhCE phenotype and RHD genotype of blood donors with weak D phenotype in Shenzhen. Methods Blood samples were collected from 38 donors. The D blood group of these samples was tested using anti-D monoclonal IgM/IgG blood identification reagent. The CE phenotype was identified using monoclonal anti-C, anti-c, anti-E, and anti-e. The 10 exons of RHD gene were analyzed by PCR-SSP. The full length coding region of RHD gene was sequenced if necessary. The correlation between RhCE phenotype and RHD genotype was analyzed. Results Serology results showed that the 38 donors were D variant. In 38 donors, eight RHD alleles have been reported, RHD*weak partial 15(15/38), RHD*DEL1(11/38), RHD*DVI.3(5/38), RHD*weak D type 61(1/38), RHD*weak D type 95(1/38), RHD*DCC(1/38), RHD*DFR1(1/38), RHD*weak D type 50(1/38), RHD*weak partial 15/RHD*DEL1(1/38) were identified. Additionally, RHD*weak D type 50 was not been reported in the Chinese Han individual. Also, one novel RHD*IVS9-1C(c.1228-1G>C) allele were identified. The nucleotide sequence data of the new RHD allele was submitted to GenBank, and was assigned accession number MT755965. The correlation coefficient between RHD*weak partial 15 and RhE antigen was 0.727 (P<0.01). The correlation coefficient between RHD*DEL1 and RhC antigen was 0.645 (P<0.01). Conclusion The molecular background of weak D in Shenzhen is complicated, which mainly includes RHD* Weak Partial 15, RHD*DEL1, RHD*DVI.3, and other rare genotypes. RHD* Weak Partial 15 was associated with RhE antigen and RHD*DEL1 was associated with RhC antigen.

Key words: Rhesus blood group, RHD genotype, D variant, Correlations

中图分类号:

R457.1

吴凡, 梁爽, 彭龙, 苏宇清, 梁延连, 庄乃保. 38例血清学弱D表型献血者RhCcEe表型与RHD基因型检测情况分析^*[J]. 临床输血与检验, 2021, 23(5): 632-638.

WU Fan, LIANG Shuang, PENG Long, et al. RhCE Phenotyping and RHD Genotyping for 38 Blood Donors with weak D Phenotype[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2021, 23(5): 632-638.

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38例血清学弱D表型献血者RhCcEe表型与RHD基因型检测情况分析^*

RhCE Phenotyping and RHD Genotyping for 38 Blood Donors with weak D Phenotype

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