ABO血型基因外显子1上新变异的鉴定
Identification of Novel Variations in Exon 1 of ABO Blood Group Gene
薛阳 1李抄 1辛文龙 1曾星 1马涛 1陈芳芳 2曹晨 2高宏军2
作者信息
- 1. 贵阳市妇幼保健院输血科,贵州贵阳 550003
- 2. 江苏省诺奖得主蒂姆亨特研究院,江苏江阴 214400
- 折叠
摘要
目的:应用血清学和分子生物学方法鉴定1例ABO正反定型不一致患者的血型,并探讨其遗传学特点.方法:采用试管法鉴定该患者的ABO表型,荧光PCR法测定患者及其父母的ABO血型基因型,并对ABO基因7个外显子进行直接测序分析.结果:本例患者血清学初步鉴定为Bel亚型;基因分型检测患者及其父亲的基因型为B/O1,其母亲的基因型为O1/O1;测序发现在患者及其父亲ABO基因外显子1上有新的c.16_17delinsTGTTGCA杂合变异.结论:外显子1上新的变异导致该患者ABO血型出现Bel亚型,并具有遗传性.
Abstract
Objective:Serological and molecular biology methods were used to identify the blood type of a patient with forward and reverse ABO typing inconsistency,and to explore the genetic characteristics of this blood type.Methods:The ABO phenotype of the proband was identified by tube method,and the ABO blood group genotype of the proband and her parents was determined by fluorescent PCR.The 7 exons of the ABO gene were directly sequenced and analyzed.Results:According to preliminary serological identification,the ABO phenotype of this patient was Bel subtype.Genotyping tests showed that the ABO genotype of the proband and her father was B/O1,and her mother was O1/O1.Sequencing of exons revealed novel heterozygous variations in exon 1:c.16_17delinsTGTTGCA.Conclusion:The Novel variations in exon 1 led to Bel subtype in the ABO blood group of the proband,and these variations are heritable.
关键词
ABO血型/Bel亚型/分子生物学/基因/外显子Key words
ABO blood group/Bel subtype/molecular biology/gene/exon引用本文复制引用
出版年
2024
NETL
NSTL
万方数据