Identification of Novel Variations in Exon 1 of ABO Blood Group Gene

VernacularTitle:ABO血型基因外显子1上新变异的鉴定
Author: Yang XUE ¹ ; Chao LI ; Wen-Long XIN ; Xing ZENG ; Tao MA ; Fang-Fang CHEN ; Chen CAO ; Hong-Jun GAO
Author Information

1. 贵阳市妇幼保健院输血科,贵州贵阳 550003
Keywords: ABO blood group; Bel subtype; molecular biology; gene; exon
From: Journal of Experimental Hematology 2024;32(4):1212-1216
CountryChina
Language:Chinese
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.