利用三代测序技术鉴定c.586T＞C突变导致的Bel亚型OACSTPCD
Identify the Bel Subtype of C.586T＞C Mutation by Third-Generation Sequencing Technology
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…查看全部>>
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 o…查看全部>>
崔文燕;刘金华;付威义
郑州大学第二附属医院输血科,郑州 450014郑州大学第二附属医院输血科,郑州 450014西安浩瑞基因技术有限公司,西安 710000
临床医学
Bel亚型血型血清学分子机制单体型鉴定PacBio三代测序技术
The Bel subtypeBlood group serologyMolecular mechanismHaplotype identificationPacBio third-generation technology
《临床输血与检验》 2024 (2)
262-266,5
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
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