[ABO基因c.940A>G变异所致A（W）37B亚型的鉴定及家系分析]
[Identification and pedigree analysis for an A(W)37B subtype due to c.940A>G variant of ABO gene].
作者信息
Li Xiaojian, Huang Xiangyan, Wu Wen, Guo Xingying
机构信息
School of Medical Laboratory, Weifang Medical University, Weifang, Shandong 261053, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):496-498. doi: 10.3760/cma.j.cn511374-20200804-00581.
OBJECTIVE
To delineate the serological and molecular profiles of a patient with A(w)37B subtype.
METHODS
The ABO bloodtypes of the proband, his wife and daughter were determined with a standard serological method. Their ABO genotypes were determined by sequence-specific primer polymerase chain reaction (PCR-SSP). All exons of the ABO gene were directly sequenced. Exons 6 and 7 of the ABO gene were further analyzed by cloning and sequencing.
RESULTS
The red blood cells of the proband showed a weak B phenotype. His serum sample contained weak reactive anti-A antibody, which was defined as A(w)B blood group based on the serological characteristics. The A and B alleles were detected by blood group genotyping. Gene cloning and sequencing have identified a characteristic c.940A>G variant (ABOAW.37) in exon 7 of the ABO gene, which resulted in substitution of Lysine by Glutamate at position 314. The proband's daughter has inherited the ABOAW.37 allele.
CONCLUSION
The c.940A>G variant in exon 7 of the ABO gene probably underlay the decreased activity of GTA transferase and resulted in the Aw37 phenotype.
目的
描绘一名A(w)37B亚型患者的血清学和分子特征。
方法
采用标准血清学方法测定先证者、其妻子和女儿的ABO血型。通过序列特异性引物聚合酶链反应（PCR-SSP）确定他们的ABO基因型。对ABO基因的所有外显子进行直接测序。通过克隆和测序对ABO基因的外显子6和7进行进一步分析。
结果
先证者的红细胞表现为弱B表型。其血清样本中含有弱反应性抗A抗体，根据血清学特征被定义为A(w)B血型。通过血型基因分型检测到A和B等位基因。基因克隆和测序在ABO基因外显子7中鉴定出一个特征性的c.940A>G变异（ABOAW.37），该变异导致314位赖氨酸被谷氨酸取代。先证者的女儿继承了ABOAW.37等位基因。
结论
ABO基因外显子7中的c.940A>G变异可能是导致GTA转移酶活性降低并产生Aw37表型的原因。
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