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
崔文燕 1刘金华 1付威义2
作者信息
- 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
- 折叠
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.
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.
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Key words
The Bel subtype/Blood group serology/Molecular mechanism/Haplotype identification/PacBio third-generation technology引用本文复制引用
基金项目
河南省医学科技攻关计划项目-联合共建项目(LHGJ20220485)
出版年
2024
国家科技期刊平台
NSTL
维普
万方数据