[ABO基因变异Bw37等位基因的鉴定]
[Identification of a variant Bw37 allele of the ABO gene].
作者信息
Yuan Wenjing, Chen Qianqian, Lin Jiajin
机构信息
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Zhejiang 325027, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):777-779. doi: 10.3760/cma.j.cn511374-20210408-00316.
OBJECTIVE
To explore the molecular basis for an individual with a rare variant of Bw37 phenotype.
METHODS
Tube agglutination testing was used to determine the ABO blood groups. Genotyping were carried out using polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing for exons 6 and 7 of the ABO locus.
RESULTS
Serologic testing of the proband showed that he was weak B for the positive ABO blood typing and B for the negative blood typing. The genotype of him was determined as B/B by PCR-SSP. DNA sequencing showed that he has harbored c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A variants, which have resulted in p.R176G, p.G235S and p.G268A substitutions. The genotypes of the proband and his mother were identified as ABOBw37/B101 and ABOO.01.02/ABO*O.01.01, respectively.
CONCLUSION
Serological identification combined with genotyping should be considered for the verification of ABO subtypes.
目的
探究具有罕见Bw37表型变异个体的分子基础。
方法
采用试管凝集试验确定ABO血型。使用聚合酶链反应-序列特异性引物（PCR-SSP）和对ABO基因座外显子6和7进行直接测序进行基因分型。
结果
先证者的血清学检测显示，其正向ABO血型分型为弱B型，反向血型分型为B型。通过PCR-SSP确定其基因型为B/B。DNA测序显示他携带了c.297A>G、c.526C>G、c.657C>T、c.703G>A、c.796C>A、c.803G>C和c.930G>A变异，这些变异导致了p.R176G、p.G235S和p.G268A替换。先证者及其母亲的基因型分别鉴定为ABOBw37/B101和ABOO.01.02/ABO*O.01.01。
结论
ABO亚型的验证应考虑血清学鉴定与基因分型相结合。
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