ty -jour t1-从少量血清中提取基因组DNA，用于α 1 ₁ -Antitrypsin基因型基因型分析JF-欧洲呼吸杂志JO -EUR RESSIR J SP -215 LP -215 LP -219 DO -10.1183/10.1183/10.1183/09031936.03.00044303 VL -21 IS -2 au -andolfatto，S。au -Namour，F。au -au -Garnier，A -L。Au -Chabot，F。au -Gueant，J -L。au -aimone -gastin，I。y1-2003/02/01 ur -http：//www.qdcxjkg.com/content/21/21/215.abstract n2-如果实验室诊断α1-抗逆转录蛋白（α1-AT）缺乏症通常基于其表型通过等电聚焦，α1-抗蛋白酶抑制剂（PI）S和PIZ基因型也可以通过基于脱氧核糖核酸（DNA）的方法来确定。最近，已经描述了几种制备血清基因组DNA的方法。当前研究的目的是通过聚合酶链反应（PCR）确定血清提取的DNA的PI等位基因，并将这些结果与用全血提取的DNA获得的结果进行比较。血清α1-AT浓度和表型鉴定是在43名住院患者中系统地进行的。基因组DNA同时从全血和血清中纯化。使用PCR介导的位置定向诱变方法发现了突变检测。关于表型鉴定，29例MM纯合子，11例是S（MS = 7）或Z（MZ = 4）的杂合子（MZ = 4），3例显示ZZ表型。 Genotyping analyses gave identical results with serum and whole blood extracted DNA and all the results were in agreement with the phenotyping results. The authors found that the deoxyribonucleic acid-based test proved to be a reliable tool for α1-antitrypsin deficiency diagnosis and appears to be an alternative for the labour intensive α1-antitrypsin determination by isoelectric focusing. The authors also concluded that this method yields good quality deoxyribonucleic acid from serum, equal to that extracted from whole blood and is helpful in retrospective studies of multiple genetic markers. ER -