822例地中海贫血患者基因检测结果分析  

Analysis on gene detection in 822 patients with thalassemia

作　　者：蓝柳燕[1] 王君[1] 林漫燕[1] 

机构地区：[1]汕头大学医学院第二附属医院检验科,广东汕头515041

出　　处：《实验与检验医学》2011年第3期212-214,共3页Experimental and Laboratory Medicine

基　　金：汕头市重点科技计划项目;汕府科[2008]85号

摘　　要：目的对疑似地中海贫血(地贫)患者进行基因检测,并对结果进行分析。方法将全血标本进行DNA提取、PCR扩增后,对PCR产物进行电泳、染色后在电泳仪上扫描以判断α-地中海贫血结果;及利用杂交捕获法对含β-地中海贫血DNA膜条进行杂交试验,通过显色来判断结果。结果检测α-地贫447例中异常101例(23.96%)、β-地贫375例中异常65例(15.97%),α、β地中海贫血合并异常4例。结论基因检测有利于地中海贫血的检出,地贫高发区优生优育应重视地中海贫血的筛查,防止重症地贫患儿出生。Objective To improve the diagnosis of thalassemia.Methods Target DNA was extracted from blood samples and amplified by PCR,then the PCR products were electrophoresised and stained,the results were analyzed according to scanning.β-thalassemia was detected with DNA film by gene hybridization capture method.Results Of 447 suspected α-thalassemia cases,110 cases（23.96%） had abnormal abnormal findings.65 cases（15.97%） had abnormal findings from 375 suspected β-thalassemia cases.4 cases of β-thalassemia compound α-thalassemia were diagnosed.Conclusions Genetic testing is helpful for the diagnosis of thalassemia,and screening of thalassemia should be strengthened to prevent the born of severe thalassemia babies in high incidence area.

关 键 词：Α-地中海贫血 Β-地中海贫血 基因检测 

分 类 号：R556.62[医药卫生—血液循环系统疾病]