一例Bw14亚型的鉴定及其分子机制的研究  

Identification of a Bw14 subtype and exploration for its molecular basis

作　　者：陈青[1] 李平[2] 肖建宇[1] 陆乐[2] 叶燕[1] 王树亚 黄成垠[1] 庄云龙[3] Chen Qing Li Ping Xiao Jianyu Lu Le Ye Yan Wang Shuya Huang Chengyin Zhuang Yunlong(Blood Center of Jiangsu Province, Nanjing, Jiangsu 210042, China Department of Transfusion Medicine, The Affiliated Drum Tower Hospital of Nanjing University, Nanjing, Jiangsu 210009, China Blood Center of Shandong Province, Jinan , Shandong 250014, China)

机构地区：[1]江苏省血液中心,南京210042 [2]南京大学医学院附属鼓楼医院输血科,210008 [3]山东省血液中心,济南250014

出　　处：《中华医学遗传学杂志》2017年第5期755-758,共4页Chinese Journal of Medical Genetics

基　　金：江苏省重点研发计划社会发展项目（BE2015717）;江苏省“十二五”期间“科教兴卫工程”医学重点人才（RC2011088）;江苏省第四期“333工程”资助项目（BRA2015501）;江苏省第十批“六大人才高峰”项目（2013-wSw-039）;2010、2014年度江苏省卫生国际交流支撑计划项目;山东省医药卫生科技发展计划重点项目（2013WS0170）

摘　　要：目的对1例罕见的ABO亚型进行鉴定并探讨其分子机制。方法在标准血型血清学方法鉴定的基础上，应用PCR方法扩增患者AB0基因7个外显子和侧翼内含子及克隆测序等方法进行ABO亚型的基因分型和单倍型分析。结果患者常规卡式法ABO正定型为B型，反定型有极弱的抗-B抗体，表现为正反定型不符；吸收放散实验证明患者红细胞表面不存在A抗原；AB0基因测序发现其第7外显子523位碱基发生G〉A突变，导致175位缬氨酸（VaI）被甲硫氨酸（Met）替换；ABO基因扩增产物测序及克隆测序结果表明该患者ABO血型基因型为ABO＊Bw14／001。结论分子生物学方法是鉴定疑难血型的必要方法。ABO基因的523G〉A突变可能是导致该Bw14亚型的B抗原表达减弱的分子遗传学基础之一。Objective To identify a rare subtype of the ABO blood group system and explore its molecular basis. Methods Based on a standard serological assay, ABO subtype and haplotype were analyzed through PCR amplification of the 7 exons and adjacent introns of the ABO gene and TA clone sequencing. Results Forward typing showed a B type, while reverse typing demonstrated an extremely weak anti-B on routine gel analysis, which indicated a forward and reverse typing discrepancy. Abs＇orption- elution testing confirmed that there was no A antigen on the surface of patient＇s red blood cells. Sequencing of the ABO gene showed a G〉A exchange at position 523 in exon 7, which resulted in a Val to Met substitution at codon 175. Clone sequencing of the amplificons of the ABO gene showed an ABO＊ Bw14/ O01 heterozygote genotype. Conclusion Molecular method is useful for the identification of ambiguous blood groups. A 523G〉A substitution of the ABO gene resulting in a Bw14 subtype probably underlies the weak B phenotype noted in the patient.

关 键 词：ABO血型 B亚型 ABO基因 基因分型 

分 类 号：R457.11[医药卫生—治疗学]