c.955C>G变异致ABO等位基因增强现象的研究及文献复习*

doi:10.3969/j.issn.1671-2587.2022.02.003

临床输血与检验 ›› 2022, Vol. 24 ›› Issue (2): 147-150.DOI: 10.3969/j.issn.1671-2587.2022.02.003

c.955C>G变异致ABO等位基因增强现象的研究及文献复习^*

冯晨晨, 史丽莉, 李慧, 刘太香, 丁文艺, 陈青

210042 江苏省血液中心（冯晨晨,史丽莉,刘太香,丁文艺,陈青）; 南京医科大学（李慧）; 南京医科大学全球健康中心（陈青）

收稿日期:2021-09-30 发布日期:2022-04-12
通讯作者: 陈青,女,研究员,主要从事免疫血液学研究,（E-mail）chenqing90@yahoo.com。
作者简介:冯晨晨（1990-）,女,安徽颍上人,助理研究员,博士,主要从事免疫血液学研究,（E-mail）fccsmile@foxmail.com。
基金资助:
*本课题受江苏省“十三五”期间“科教强卫工程”医学重点人才（No.ZDRCB2016010）,江苏省重点研发计划社会发展项目（No.BE2015717）,江苏省高层次卫生人才“六个一工程”拔尖人才项目（No.LGY2017095）,江苏省第五期“333高层次人才培养工程”（No.2016-Ⅲ-3344）资助

A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review

FENG Chen-chen, SHI Li-li, LI Hui, et al

Jiangsu Province Blood Center, Nanjing 210042

Received:2021-09-30 Published:2022-04-12

摘要/Abstract

摘要： 目的鉴定ABO疑难血型基因型,分析ABO亚型中等位基因增强现象的遗传规律。方法采用血清学方法检测ABO血型,PCR扩增测序ABO基因编码区、上游CBF/NF-Y增强子区、启动子和内含子1中红细胞特异性调节元件的核苷酸序列,克隆测序ABO基因第6和7外显子分析鉴定其基因型。结果血清学结果提示患者为A_亚B型,基因测序结果发现其为A/B杂合子。克隆测序确定一个等位基因为ABO*A1.02 +c.955C>G,另一个等位基因为ABO*B.01。结论 A基因携带c.955C>G（p.Leu319Val）变异且与B基因同时遗传时,存在等位基因增强现象。

关键词: ABO亚型, 等位基因增强, 基因测序

Abstract: Objective To identify genotype of ABO subtype and to analyze the heredity of ABO allelic enhancement. Methods ABO blood grouping were identified by serological methods. The full coding regions of the ABO gene, the upstream CBF/NF-Y enhancer region, promoter, and the erythroid cell-specific regulatory elements in intron 1 were nucleotide sequenced. Exons 6 and 7 of the ABO gene were clone sequenced. Results Serological result showed A_subB. Gene sequencing showed A/B heterozygous genotype. The haplotype sequencing analysis revealed that one allele was ABO*A1.02 with a c.955C>G variation, and the other allele was ABO*B.01. Conclusion Allelic enhancement occurs when A allele carries the c.955C>G （p.Leu319Val） variation and both A and B allele were inherited simultaneously.

Key words: ABO subtype, Allelic enhancement, Gene sequencing

中图分类号:

R457.1⁺1

冯晨晨, 史丽莉, 李慧, 刘太香, 丁文艺, 陈青. c.955C>G变异致ABO等位基因增强现象的研究及文献复习^*[J]. 临床输血与检验, 2022, 24(2): 147-150.

FENG Chen-chen, SHI Li-li, LI Hui, et al. A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2022, 24(2): 147-150.

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c.955C>G变异致ABO等位基因增强现象的研究及文献复习^*

A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review

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