Blood Transfusion Department, Ruijin Hospital, Medical School of Shanghai, Jiao Tong University, Shanghai, China.
Fujian Medical University Union Hospital, Fuzhou, China.
Blood Transfus. 2019 May;17(3):217-222. doi: 10.2450/2018.0091-18. Epub 2018 Sep 3.
A weak ABO subgroup is one of the most important causes of an ABO blood grouping discrepancy. Here, we investigated the distribution of weak ABO subgroups in the Chinese population and identified ten novel weak ABO subgroup alleles.
We performed phenotype investigations by serological studies, analysed the DNA sequence of the ABO gene by direct sequencing or sequencing after cloning, and evaluated the role of glycosyltransferase mutations by in silico analysis and in vitro expression assay.
Three hundred and fifty-one individuals with a weak ABO subgroup were detected among 1.45 million blood-typed subjects. Ten novel weak ABO subgroup alleles were identified. Molecular modelling and analysis of GTA mutation p.L339P suggested that the mutation may change the local conformation of GTA and reduce its stability. The in vitro expression assay showed that A antigen expression and agglutination of HeLa cells transfected with GTA mutant p.L339P decreased significantly compared to those of cells transfected with wild-type GTA.
Ten novel weak ABO subgroup alleles were identified in the Chinese population. GTA mutant p.L339P may lead to a weak A phenotype by changing the local conformation of GTA and reducing its stability.
弱 ABO 亚型是 ABO 血型不合的最重要原因之一。在这里，我们调查了中国人群中弱 ABO 亚型的分布，并鉴定了 10 种新的弱 ABO 亚型等位基因。
我们通过血清学研究进行表型研究，通过直接测序或克隆后测序分析 ABO 基因的 DNA 序列，并通过计算机分析和体外表达试验评估糖基转移酶突变的作用。
在 145 万例血型鉴定的人群中，检测到 351 例弱 ABO 亚型个体。鉴定了 10 种新的弱 ABO 亚型等位基因。GTA 突变 p.L339P 的分子建模和分析表明，该突变可能改变 GTA 的局部构象并降低其稳定性。体外表达试验表明，与转染野生型 GTA 的细胞相比，转染 GTA 突变 p.L339P 的 HeLa 细胞的 A 抗原表达和凝集明显降低。
在中国人群中鉴定了 10 种新的弱 ABO 亚型等位基因。GTA 突变 p.L339P 可能通过改变 GTA 的局部构象并降低其稳定性导致弱 A 表型。
