CAJ | 학술논문

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.
목적 관찰실시심장수술항응혈매Ⅲ(ATⅢ)기인돌변적합살극족환자가계간소내약정황,탐토가계ATⅢ기인돌변여간소내약적궤제.방법 대실시심장수술적선증자급가계성원진행병사자료조사병채취혈표본검측응혈상관지표급ATⅢ기인측서분석,병수궤선택60례합살극족건강인군진행ATⅢ기인측서분석.결과 선증자급가계중유4례ATⅢ기인제7외현자49위점발생G/A잡합형돌변,2례발생G/G순합자돌변.경분석발현돌변가인기안기산출현Ala391Thr적돌변;ATⅢ기인제7외현자116위점4례발생G/G순합자돌변,2례발생G/A잡합형돌변,단해위점미인기안기산적돌변,49위점발생G/A잡합형돌변적가계성원ATⅢ활성균저우미발생돌변자;60례합살극족건강대조조미발생상술2개위점적기인돌변.결론 해가계ATⅢ기인제7외현자49위점화116위점기인돌변위가족유전성돌변,기중49위점Ala391Thr적돌변가능여간소내약유관.
Objective To study heparin-resistant Kazak pedigree implement cardiac surgery patients antithrombin Ⅲ (ATⅢ) gene mutations,investigate the mechanism of the relationship between family ATⅢ gene mutation and heparin-resistant.Methods The proband implements cardiac surgery and conduct the clinical data of family members,taking blood samples to detect clotting related indicators and AT Ⅲ gene sequencing analysis,then randomly selected 60 cases Kazak healthy populations AT Ⅲ gene sequencing.Results The prohand and family have four AT Ⅲ gene exon 7 of 49 points occurred G/G heterozygous 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 Ⅲ 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.