应用多重等位基因特异PCR技术进行β地中海贫血的基因诊断  

APPLICATION OF MULTIPLEX ALLELE-SPECIFIC AMPLIFICATION FOR MOLECULAR DIAGNOSIS OF β-THALASSEMIA

作　　者：毛跃华[1] 孙琼[1] 李峥 盛敏[1] 黄淑帧[1] 曾溢滔[1] 

机构地区：[1]上海市儿童医院上海医学遗传研究所

出　　处：《中华医学遗传学杂志》1995年第4期209-211,T015,共3页Chinese Journal of Medical Genetics

基　　金：国家863计划;美国NIH科学基金

摘　　要：在等位基因特异ＰＣＲ及多重ＰＣＲ的基础上建立了多重等位基因特异ＰＣＲ技术（ＭＡＳＰＣＲ），对中国人常见的－２８Ａ→Ｇ，ＣＤ１７→０，ＣＤ４１－４２（－４ｂｐ）和ＣＤ７１－７２（＋Ａ）等β地中海贫血基因突变进行检测，应用该技术对２１例β地中海贫血患者或携带者进行基因诊断和２例高风险胎儿进行产前诊断诊断，诊断结果与ＰＣＲ／ＡＳＯ探针点杂交或ＤＮＡ测序的结果完全一致，证实多重等位基因特异ＰＣＲ技术具有简便、快速、可靠和经济等优点。On the basis of allele-specific amplification(ASPCR) and multiplex PCR,we developed a new technique─multiplex allele-specific amplification(MASPCR) to detect four types of β-thalassemia mutations[CD41-42(-4bp),CD17→0 CD71-72(+A)and-28 A→G],which accounted for about 60%of all β-thalassemia alleles in Chinese. Using this technique,we successfully pinpointed 21 cases of β-thalassemia patients or carriers,and two fetuses at risk for the disease were prenatally diagnosed. All the results were confirmed by PCR/ASO probe hybridization or DNA sequencing.Therefore,MAS-PCR proves a sensitive,convinient,reliable and economical technique for molecular diagnosis of β-thalassemia as well as other monogenic disorders.

关 键 词：Β地中海贫血 多聚酶链反应 基因诊断 产前诊断 

分 类 号：R556.610.4[医药卫生—血液循环系统疾病] R714.55[医药卫生—内科学]