Yang Xue, Chao Li, Wen-Long Xin, Xing Zeng, Tao Ma, Fang-Fang Chen, Chen Cao, Hong-Jun Gao
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[Identification of Novel Variations in Exon 1 of ABO Blood Group Gene].
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.
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