利用三代测序技术鉴定c.586T>C突变导致的Bel亚型*

doi:10.3969/j.issn.1671-2587.2024.02.016

临床输血与检验 ›› 2024, Vol. 26 ›› Issue (2): 262-266.DOI: 10.3969/j.issn.1671-2587.2024.02.016

利用三代测序技术鉴定c.586T>C突变导致的Bel亚型^*

崔文燕¹, 刘金华¹, 付威义²

¹郑州大学第二附属医院输血科,郑州 450014;
²西安浩瑞基因技术有限公司,西安 710000

收稿日期:2024-01-04 出版日期:2024-04-20 发布日期:2024-04-23
作者简介:崔文燕,主要从事疑难血型鉴定及交叉配血方面研究,（E-mail）cuiwenyan85@126.com。
基金资助:
*本课题受河南省医学科技攻关计划项目-联合共建项目（No.LHGJ20220485）资助

Identify the Bel Subtype of C.586T>C Mutation by Third-Generation Sequencing Technology

CUI Wenyan¹, LIU Jinhua¹, FU Weiyi²

¹Department of Blood Transfusion, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450014;
²Xi 'an Haorui Gene Technology Co., LTD, Xi'an 710000

Received:2024-01-04 Online:2024-04-20 Published:2024-04-23

摘要/Abstract

摘要： 目的利用PacBio三代测序技术鉴定c.586T>C突变导致的Bel亚型,并分析Bel亚型家系的血型血清学特点。方法 ABO血型表型检测使用血清学方法,对ABO正反定型不符的家系标本进行ABO基因第6、7号外显子Sanger测序。利用PacBio三代技术对先证者及其子女的3例样本进行ABO基因全长单体型分析。结果先证者血清学表型为Bel亚型,测序技术鉴定ABO基因序列第7外显子存在c.586T>C位点突变,三代测序单体型鉴定先证者ABO基因型为ABO*BEL（c.586T>C）/O01.02,其长子和长女基因型为：ABO*A1.02/BEL（c.586T>C）、ABO*B.01/BEL（c.586T>C）。结论 c.586T>C位点突变是导致本例Bel的分子基础,PacBio三代测序技术能够精准鉴定ABO亚型单体型。

关键词: Bel亚型, 血型血清学, 分子机制, 单体型鉴定, PacBio三代测序技术

Abstract: Objective To identify the Bel subtype of c.586T>C mutation by third-generation technology, and analyze the serological characteristics of the Bel subtype blood group system. Methods The ABO blood type phenotyping examination relies on serological methods. In cases where there is a discrepancy between the ABO forward and reverse typing in a familial sample, the ABO gene's 6th and 7th exons are sequenced using Sanger sequencing. The full-length haplotype analysis of ABO gene was performed in 3 samples of proband and her children using the PacBio third-generation technology. Results The proband's serological phenotype is identified as the Bel subtype. Sequence analysis reveals a mutation at position c.586T>C in the 7th exon of the ABO gene. The haplotype analysis through third-generation technology confirms the proband's ABO genotypes as ABO*BEL (c.586T>C)/O01.02. As for their eldest son and daughter, their genotypes are determined as ABO*A1.02/BEL (c.586T>C) and ABO*B.01/ BEL (c.586T>C), respectively. Conclusion The c.586T>C mutation at the site is responsible for the molecular basis of the Bel phenotype in this case. PacBio third-generation technology enables accurate identification of ABO subtype haplotypes.

Key words: The Bel subtype, Blood group serology, Molecular mechanism, Haplotype identification, PacBio third-generation technology

中图分类号:

R446

崔文燕, 刘金华, 付威义. 利用三代测序技术鉴定c.586T>C突变导致的Bel亚型^*[J]. 临床输血与检验, 2024, 26(2): 262-266.

CUI Wenyan, LIU Jinhua, FU Weiyi. Identify the Bel Subtype of C.586T>C Mutation by Third-Generation Sequencing Technology[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2024, 26(2): 262-266.

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利用三代测序技术鉴定c.586T>C突变导致的Bel亚型^*

Identify the Bel Subtype of C.586T>C Mutation by Third-Generation Sequencing Technology

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