1个新的Bm等位基因鉴定附文献复习  

Identification of a novel Bm allele and literature review

作　　者：邱丽 蔡晓红[2] 苗温 常丽丽 向东[2] 

机构地区：[1]天津市滨海新区塘沽中心血站,天津300456 [2]上海市血液中心,200051

出　　处：《中国输血杂志》2014年第2期143-146,共4页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金青年项目(81100391);上海市卫生局新优青人才项目(XYQ2011049)

摘　　要：目的鉴定1例Bm新等位基因。方法 ABO血清学定型使用标准血清学实验方法,对ABO基因7个外显子及其侧翼序列作PCR扩增、基因克隆和测序分析。结果血清学检测1例Bm表型;DNA克隆和测序分析显示,此献血者的ABO基因为B/O02基因型,在B等位基因第7外显子存在503G>T错义突变,导致α1,3-D-半乳糖转移酶的氨基酸发生R168L置换,表现为Bm亚型。在120个随机正常人标本中未检出此突变。结论鉴定证实发现1个新的Bm等位基因,其R168L氨基酸置换改变了酶的保守区域,可能由此导致了B酶活性下降,出现Bm亚型。Objective To identify a novel Bm allele. Methods Serological tests were,performed with standard sero- logical methods. DNA sequences of all seven exons and exon - intron boundaries of ABO gene were analyzed by polymerase chain reaction （PCR）, direct DNA sequencing and sequencing after gene cloning. Results The Bm phenotype was identi- fied by serological tests. DNA analysis revealed the ABO gene of the individual was heterozygous of B/O02 allele. A novel mutation 503G 〉 T was identified in B allele which resulted in the amino acid substitution R168L in thect1,3-D-galactosyl- transferase that led to the Bm phenotype. The mutations were not found in 120 randomly selected samples. Conclusion A novel Bm allele was identified. The amino acid substitution RI68L changed the conserved region of the enzyme and may re- sult in the dramatic reduction of the ct1,3-D-galactosyltransferase＇s activity which led to the Bm phenotype.

关 键 词：ABO血型 BM亚型 等位基因 血清学检测 DNA克隆 测序 

分 类 号：R457.11[医药卫生—治疗学]