Ax亚型的分子生物学研究  

Molecular study on Ax subgroup in Chinese population

作　　者：郭忠慧[1] 向东[1] 朱自严[1] 刘曦[1] 沈伟[1] 陈和平[1] 王健莲[1] 张嘉敏[1] 刘达庄[1] 

机构地区：[1]上海市血液中心,上海200051

出　　处：《中国输血杂志》2004年第4期235-238,共4页Chinese Journal of Blood Transfusion

基　　金：上海市自然科学基金 ( 0 2ZB14 0 87);上海市卫生局青年科研基金 ( 13 10 14Y14 )共同资助课题

摘　　要：目的　研究中国汉族人群Ax亚型的分子生物学特点。方法　首先采用双重PCR RLFP方法 ,对 8份血清学试验疑为Ax及AxB的标本 ,做ABO初步基因分型 ,明确其中的A、B或O基因 ;然后用限制性内切酶mobI筛选ABO基因第 7外显子中的T6 4 6A的突变。对不具有该突变而血清学疑为Ax的标本以及血清学和基因分型不一致的标本 ,则进一步对其ABO基因第 6和 7外显子做深入的克隆测序分析。结果　 8份标本中有半数含有T6 4 6A点突变 ,剩余 4份中 ,1份为包含C4 0 7T和C4 6 7T错义突变的A weak 0 1等位基因 ,1份为携带新的核苷酸变异的Ax (C4 6 7T和C74 5T)等位基因 ,另外 2份血清学疑为AxB ,初步基因分型为BO的个体 ,克隆测序的结果显示两者均有正常的O基因 ,但是其B等位基因均发生了新的nt6 4 0位A G突变。结论　在中国汉族人群中检测到新的Ax及B(A)Objective To study Ax subgroup’s molecular characteristics in Chinese Han population. Methods Eight samples suspected as Ax subgroup were analyzed and duplex PCR RFLP test was used to determine the primary ABO genotypes. These samples were then analyzed by another PCR RFLP test to identify whether there was an nt646 “T” to “A” mutation within the exon 7 of ABO gene, which was a known mutation related to most Ax phenotypes. Samples with discrepancy between serological and gene typing were chosen for further T A cloning and sequence analysis. Results Four out of all tested samples had the known nt646 “T” to “A” mutation. An A *weak01 allele including nt407 and nt467 “C” to “T” mis sense mutation was detected in this study. Moreover, a novel Ax allele with a new single nucleotide C to T mutation was detected at nt745. Another 2 unrelated samples were suspected as AxB through serological test, both of which contained higher quantities of anti A and showed strong agglutination with anti H. And their initial genotypes were BO, and sequence analysis clarified that both had normal O gene and novel nt640 “A” to “G” mutation in their B alleles. Conclusion The novel Ax alleles, one kind of novel B(A) allele and one A *weak01 allele in Chinese Han individuals,have been detected. B(A) phenotypes should have their molecular biology bases as well as other ABO subgroups.

关 键 词：ABO亚型/血型 AX亚型 等位基因 AX 等位基因 B(A) 

分 类 号：Q754[生物学—分子生物学] R454.1[医药卫生—治疗学]