抗凝血酶Ⅲ基因突变哈萨克族患者肝素耐药研究  

Research on heparin - resistant in Kazak patients with antithrombin Ⅲ gene mutation

作　　者：吴建江[1] 李鑫[1] 王江[1] 郑宏[1] 

机构地区：[1]新疆医科大学第一附属医院麻醉科,乌鲁木齐830054

出　　处：《中华实验外科杂志》2015年第8期1859-1862,共4页Chinese Journal of Experimental Surgery

基　　金：新疆医科大学第一附属医院青年基金资助项目（2013ZRQN38）

摘　　要：目的观察实施心脏手术抗凝血酶Ⅲ（ATⅢ）基因突变的哈萨克族患者家系肝素耐药情况，探讨家系ATⅢ基因突变与肝素耐药的机制。方法对实施心脏手术的先证者及家系成员进行病史资料调查并采取血标本检测凝血相关指标及ATⅢ基因测序分析，并随机选择60例哈萨克族健康人群进行ATⅢ基因测序分析。结果先证者及家系中有4例ATⅢ基因第7外显子49位点发生G／A杂合型突变，2例发生G／G纯合子突变。经分析发现突变可引起氨基酸出现Ala391Thr的突变；ATⅢ基因第7外显子116位点4例发生G／G纯合子突变，2例发生G／A杂合型突变，但该位点未引起氨基酸的突变，49位点发生G／A杂合型突变的家系成员ATⅢ活性均低于未发生突变者；60例哈萨克族健康对照组未发生上述2个位点的基因突变。结论该家系ATⅢ基因第7外显子49位点和116位点基因突变为家族遗传性突变，其中49位点Ala391Thr的突变可能与肝素耐药有关。Objective To study heparin -resistant Kazak pedigree implement cardiac surgery patients antithrombin Ⅲ （ ATⅢ ） gene mutations, investigate the mechanism of the relationship between fami- ly ATⅢ gene mutation and heparin - resistant. Methods The proband implements cardiac surgery and conduct the chnical data of family members, taking blood samples to detect clotting related indicators and AT IU gene sequencing analysis, then randomly selected 60 cases Kazak healthy populations ATⅢ gene se- quencing. Results The preband and family have four ATⅢ gene exon 7 of 49 points occurred G/G heter- ozygous mutation and two G/A homozygous mutation, amino acid mutations can cause mutations occur Ala391Thr; ATⅢ gene exon 7 of 116 points occur G/G homozygous mutation in four persons, the two had G/A heterozygous mutation, but the site did not cause mutation of amino acids, 49 points occur family members G/A＇s ATⅢ activity were lower than those mutations did not occur; 60 cases of healthy control Kazak mutation of the two sites did not occur. Conclusion The pedigree for AT m gene exon 7 of 49 points and 116 points for the hereditary gene mutation mutations, including Ala391Thr mutation in 49 point may relate to heparin- resistant.

关 键 词：抗凝血酶Ⅲ 基因突变 哈萨克族患者 心脏手术 肝素耐药 

分 类 号：R734.2[医药卫生—肿瘤]