Department of Blood Transfusion, The Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong 226001, China.
Department of Blood Transfusion, Affiliated Hospital of Nantong University, Nantong 226001, China.
Transfus Apher Sci. 2022 Dec;61(6):103509. doi: 10.1016/j.transci.2022.103509. Epub 2022 Jul 9.
To analyze the molecular mechanism of rare B subgroup in the ABO blood group system and conduct pedigree investigations.
The blood group was detected by conventional serological method, and ABO gene of proband and her family was amplified and sequenced by polymerase chain reaction method.
The study showed that the proband was a B phenotype by conventional serological method. Her family's serological results were as follows, her father and eldest brother were B subgroup while her mother and second eldest brother were O group. The proband's ABO gene sequencing result was ABOBW.27/ABOO.01.02. Her father, mother and two elder brothers were ABOBW.27/ABOO.01.01, ABOO.01.01/ABOO.01.02, ABOBW.27/ABOO.01.02, ABOO.01.01/ABOO.01.02.
Conventional blood group serology combined with molecular diagnostic technology can accurately identify the B subgroup, and the pedigree investigation analysis showed that the proband's allelic mutation came from her father. She has gained a point mutation of c.905A>G on the basis of ABO*B.01.
分析 ABO 血型系统中罕见 B 亚群的分子机制，并进行家系调查。
采用常规血清学方法检测血型，采用聚合酶链反应（PCR）方法扩增并测序先证者及其家族的 ABO 基因。
研究显示，先证者经常规血清学方法鉴定为 B 表型。其家族的血清学结果如下：父亲和大哥为 B 亚群，母亲和二哥为 O 组。先证者 ABO 基因测序结果为 ABOBW.27/ABOO.01.02。其父亲、母亲和两个哥哥分别为 ABOBW.27/ABOO.01.01、ABOO.01.01/ABOO.01.02、ABOBW.27/ABOO.01.02、ABOO.01.01/ABOO.01.02。
常规血型血清学结合分子诊断技术可准确鉴定 B 亚群，家系调查分析显示先证者的等位基因突变来自其父亲。她在 ABO*B.01 的基础上获得了 c.905A>G 的点突变。
