诊断学理论与实践2015，Vol.14Issue(6)：514-518,5.DOI:10.16150/j.1671-2870.2015.06.008
B等位基因调控区突变可能导致弱B表型
A novel variant in regulatory region of B allele may be responsible for Bweakphenotype
摘要
Abstract
Objective: To investigate the molecular basis of ABO gene in a patient with serologic ABO blood group discrepancy. Methods: Microcolumnagglutination test and automatic blood type identification system were used for ABO blood group identification, Coombs′ test and antibody screening. The enhancer, promoter, exon 1-7 and their adjacent in-tron regions of the patient and parents′ ABO gene were amplified by using polymerase chain reaction (PCR), the PCR products were sequenced directly or by TA cloning to identify the gene mutation. Results: The serological typing of the patient was ABweak, the genotype was A102/B101, the CBF/NF-Y microsatellite in the enhancer region of B allele had one more 43 bp tandem repeat, and there was a -35--18 deletion of 18 bp sequence in the promoter region of B allele. Conclusions: The mutations in the regulatory region of B allele may be the cause of weak B phenotype.关键词
ABO血型/疑难血型/调控区/基因型Key words
ABO blood group/Discrepancy blood group/Regulatory region/Genotype分类
临床医学引用本文复制引用
叶星晨,游国岭,顾萍,傅启华,王静..B等位基因调控区突变可能导致弱B表型[J].诊断学理论与实践,2015,14(6):514-518,5.基金项目
上海市卫生局公共卫生优秀学科带头人培养计划(GWDTR201226) （GWDTR201226）
