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

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. 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. 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. The Novel variations in exon 1 led to Bel subtype in the ABO blood group of the proband, and these variations are heritable.

Citation

Yang Xue, Chao Li, Wen-Long Xin, Xing Zeng, Tao Ma, Fang-Fang Chen, Chen Cao, Hong-Jun Gao. Identification of Novel Variations in Exon 1 of ABO Blood Group Gene]. Zhongguo shi yan xue ye xue za zhi. 2024 Aug;32(4):1212-1216

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PMID: 39192422

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