Ax新基因的序列分析及其家系的研究  

Sequence analysis of a novel Ax allele and study on the involved ancestry

作　　者：喻琼[1] 吴国光[1] 梁延连[1] 邓志辉[1] 苏宇清[1] 王大明[1] 

机构地区：[1]广东省深圳市输血医学研究所,518035

出　　处：《中华检验医学杂志》2006年第1期75-78,共4页Chinese Journal of Laboratory Medicine

基　　金：广东省医学科研基金资助项目(2001641);深圳市科技局科研基金资助项目(200304217)

摘　　要：目的探讨Ax亚型中国汉族家系的ABO基因的分子生物学特点。方法采用序列特异性引物聚合酶链反应扩增法对血清学定为Ax血型的家系总共5份样本做基因分型,对其中4份样本进行直接测序,发现2份有异常杂合序列,进一步采用单倍体特异性引物进行序列测定。结果这个家系中2份ABO基因序列与ABOA101相比有3个位点发生了突变(467C>T、829G>A,1009A>G),定为Ax新基因,Genbank注册号为DQ092380。结论829位突变导致编码ABO糖基转移酶的277位氨基酸由缬氨酸(Val)转变为甲硫氨酸(Met),很大程度上降低了A2糖基转移酶的活性。推测277位氨基酸处于ABO血型基因编码的转移酶的活性区域。Objective To study the ABO alleles＇ molecular characteristics in a Chinese family of which some individuals were suspected as Ax subgroup. Methods Five individuals in a family who were diagnosed as Ax subgroups, were extended ABO alleles genotyping by PCR-SSP and four samples were directly sequenced. Two individuals with novel sequences were chosen for further sequence analysis by allelespecific primers. Results Sequence analysis indicated an A allele with a nucleotide sequence identical to ABO ＊ AIO1 except for three-base substitution in exon7 at position 467, 829 and 1009. The new allele＇s registered number in Genbank is DQ092380. Conclusion The mutation at nucleotide 829, which alter amino acid 277 from valine to methionine, resulted in the great reduction of activity of the A2 glycosyltransferases. We can conclude that the amino acid 277 locates activity region of the transferase encoded bv ABO gene.

关 键 词：ABO血型系统 序列分析 DNA 糖基转移酶 序列特异性引物聚合酶链反应 新基因 家系 ABO基因 分子生物学特点 ABO血型 

分 类 号：R346[医药卫生—基础医学]