摘要
目的探讨红细胞B抗原弱表达的分子生物学原因。方法应用血清学方法进行血型鉴定,包括正反定型检测,抗-A1,抗-H检测,并进行吸收放散试验以检测弱B抗原。应用直接测序对第1-7外显子进行分析,并对其中1例进行克隆后测序。结果血清学检测的23例患者红细胞均含有弱B抗原。DNA测序确定这些B亚型的等位基因,包括2例Bel型、4例B3型、14例Bw型、2例CisAB型及1例新的等位基因。其中新B等位基因,在第7外显子发生了662G>A变异,将其DNA序列上传红细胞血型抗原变异数据库,命名为Bel10。结论血型基因DNA碱基变异导致血型亚型,表现为血清学抗原减弱,Bw表型为常见B亚型。
Objective To explore the molecular reasons of weak expression of B antigen on the red cell.Methods Serological test for blood group was carried out,including red cell and plasma grouping,and anti-A1 and anti-H testing,and confirming weak A or B antigens by adsorption and elution.Exons 1-7 were sequenced directly,and one of them was cloned and sequenced.Results All of the 23 samples showed the weak B antigen by serological method.The alleles of the subgroups were identified by DNA sequencing,including 2 Bel subgroup,4 B3 subgroup,14 Bw subgroup,2 CisAB subgroup and a novel allele.The novel allele showed a nucleotide substitution 662G>A in the exon 7,and the sequence was submitted to Blood Group Antigen Gene Mutation Database,and the novel allele was named Bel10.Conclusion Nucleotide substitution in exon results in blood subgroup,which showed that the antigens were weakened,and Bw phenotype was the most frequently subgroup.
作者
解金辉
李双玉
薛孟丽
吴丽娜
赵瑛
黄娴
种靖慧
王维
董峥
孙波
李彤彤
安仕萍
李立新
Xie Jinhui;Li Shuangyu;Xue Mengli;Wu Lina;Zhao Ying;Huang Xian;Chong Jinghui;Wang Wei;Dong Zheng;Sun Bo;Li Tongtong;An Shiping;Li Lixin(Tianjin Blood Center,Tianjin 300110,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2022年第5期546-547,共2页
Chinese Journal of Medical Genetics
关键词
血型
B亚型
血清学
DNA测序
Blood group
B subgroup
Serology
DNA sequencing
