应用单管四重PCR技术检测三种缺失型α-地中海贫血  

Detection of the three deletional a - thalassemia by single - tube quadruple PCR

作　　者：方小武[1] 干志峰[1] 谭志伟[1] 单念忠[1] 梁少霞[1] 

机构地区：[1]广东省中山市博爱医院生殖遗传中心,528403

出　　处：《中国优生与遗传杂志》2005年第11期31-32,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的 应用单管四重PCR技术检测3种缺失型α-地中海贫血。方法 应用单管四重PCR技术进行302例标本 的α-地中海贫血基因诊断。结果 302例受检者中,发现- -sea/αα69例(77．5％)、-α3.7/αα 6例(6．7％)、-α3.7/- -sea5例 (5．6％)、-α4.2/- -sea4例(4．4％)、-α4.2/αα 3例(3．4％)、-α3.7/-α3.7α1例(1．1％)、- -sea/- -sea 1例(1．1％)。结论 单管 四重PCR技术是检测3种缺失型α-地中海贫血的简便、有效方法,适宜在临床上推广应用。Objective： To detect the three commonest deletional α- thalassemia by single- tube quadruple PCR. Methods： 302 samples were analyzed for the three commonest deletional α - thalassemia by single - tube quadruple PCR. Results Among 302 cases, 69 cases with - -^sea/αα（77.5%）, 6 with -α^3.7/αα（6.7%）, 5 with -α^3.7/_ _^sea（5.6%）,4 with - α^4.2/- -^sea（4.4%）,3 with - α^4.2/αα（3,4%）, one with - α^3.7/-α^3.7α（1.1%）, one with - -^sea/- -^sea（1.1%） were found. Conclusion：Single - tube quadruple - PCR is an etilcient, simple method for the detection of the three Commonest deletional α - thalassemia, and suitable for popularizing in clinical medicine.

关 键 词：四重PCR Α-地中海贫血 基因诊断 

分 类 号：R446.9[医药卫生—诊断学]