Feng Chenchen, Ren Weichao, Cheng Daosheng, Gao Jingyan, Chen Jianyong, Li Weichao, Xiao Jianyu, Liu Taixiang, Huang Chengyin, Chen Qing
Jiangsu Province Blood Center, Nanjing, Jiangsu 210042, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):23-26. doi: 10.3760/cma.j.cn511374-20200103-00004.
To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup.
The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis.
Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes.
The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.
研究携带ABO*BW.11血型亚组等位基因的一个家系的血清学和分子特征。
采用血清学方法确定9名家系成员的ABO血型。通过聚合酶链反应（PCR）扩增ABO基因的第6和第7外显子并直接测序。对患者及其父亲也进行了克隆测序分析。
血清学检测表明，先证者及其弟弟为ABw亚型，而其父亲和两个女儿为Bw亚型。克隆测序发现，先证者ABO基因的第7外显子在695位有一个T>C替换，与参考序列B.01相比，该替换被鉴定为BW.11等位基因。在该先证者的父亲、弟弟和两个女儿中也鉴定出了这种BW.11等位基因。由于等位基因竞争，A/BW.11和BW.11/O等位基因表现出明显不同的表型。
ABO基因的c.695T>C替换可能导致Bw11亚型中的等位基因竞争。联合分子和血清学方法有助于精确血型鉴定。
