摘要
目的:建立基因芯片检测技术为缺失型α-地中海贫血基因检测诊断提供良好的方法。方法:应用基因芯片检测技术对515例深圳市人民医院进行产前检查及产前诊断的妇女进行筛查。结果:其中85例缺失型α-地贫诊断为:--SEA型65例占12.62%,-α3.7型14例占2.72%;-α4.2型4例占0.78%;--SEA/-α3.7型2例占0.39%。结论:应用基因芯片检测技术检测缺失型α-地中海贫血的诊断比用传统方法如:southern杂交、跨越断裂点PCR方法更具备微量、高效、敏感、自动化等特点,更能准确地从分子水平诊断疾病,从而可代替传统检测方法成为筛查的常规方法。
Objectives： to establish gene chip for detection of deletional α-thalassemia gene prov- des a better method of clinical diagnosis. Method： using the technique of gene chip screens 515 women who needed prenatal checking and prenatal diagnosis of α-thalassemia in Shenzhen people＇s hospital. Results： 85 cases were found with α-thalassemia：65 women are the Southeast Asia dele- tion（--^SEA）, occupied 12.62%, 14 （2.72%） women are the rightward deletion（-α^3.7）;4（0. 78%） women are the leftward deletion （-α^4.2） ;and 2 （0. 39% ） are found the delection form （--^SEA/-α^3.7）. Gene mutation point arrange see to attach the figure 2. Conclusions： comparing with traditional method, such as, Southern blotting, Gap-PCR, gene chip detection have more tiny deal, efficiently, sensitive, automation.., etc. The method will be suitable for molecular diagnosis and population screening. It can be conventional method in place of traditional method.
