[ABO血型基因外显子1新变异的鉴定]
[Identification of Novel Variations in Exon 1 of ABO Blood Group Gene].
作者信息
Xue Yang, Li Chao, Xin Wen-Long, Zeng Xing, Ma Tao, Chen Fang-Fang, Cao Chen, Gao Hong-Jun
机构信息
Department of Blood Transfusion, Guiyang Maternal and Child Health Care Hospital, Guiyang 550003, Guizhou Province, China.
Jiangsu Province Nobel Laureate Tim Hunt Research Institute, Jiangyin 214400, Jiangsu Province, China.
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Aug;32(4):1212-1216. doi: 10.19746/j.cnki.issn.1009-2137.2024.04.037.
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 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 genotype of the proband and her father was , and her mother was . 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.
目的
采用血清学和分子生物学方法鉴定1例正、反定型不一致患者的血型，并探讨该血型的遗传特征。
方法
采用试管法鉴定先证者的ABO表型，采用荧光PCR法检测先证者及其父母的ABO血型基因型。对该基因的7个外显子进行直接测序和分析。
结果
根据初步血清学鉴定，该患者的ABO表型为Bel亚型。基因分型检测显示，先证者及其父亲的基因型为 ，其母亲的基因型为 。外显子测序显示外显子1存在新的杂合变异：c.16_17delinsTGTTGCA。
结论
外显子1的新变异导致先证者ABO血型为Bel亚型，且这些变异具有遗传性。
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