四引物等位特异性聚合酶链反应检测α2珠蛋白基因终止密码子突变  

Detection of Hb constant spring mutation by four of primers allele-specific PCR

作　　者：李洪义[1] 段山[1] 郑辉[2] 陈争[1] 陈路明[1] 

机构地区：[1]中山医科大学医学遗传学教研室,广州510089 [2]暨南大学医学院

出　　处：《中华检验医学杂志》2003年第3期172-174,共3页Chinese Journal of Laboratory Medicine

基　　金：卫生部科研基金资助项目 ( 94 -1 -10 3)

摘　　要：目的　建立 1种四引物等位特异性聚合酶链反应 ( 4P ASPCR)检测α地中海贫血终止密码子突变 (ConstantSpringHbCS)的方法。方法　用 4P ASPCR结合改进的缺口PCR(Gap PCR)方法 ,对 38例血红蛋白H(HbH)病患者及 2 6名正常对照者进行HbCS突变筛查 ,并用测序分析等方法 ,对结果进行验证。结果　在 38例HbH病患者中 ,16例为缺失型HbH病 ,2 2例为非缺失型HbH病 ,其中 15例含HbCS突变 ,与测序分析等方法得出的结果一致 ;7例标本有待进一步查明。结论4P ASPCR法可简便、快速、准确地检测HbH病 ,同样 ,也适于检测HbQuongSze等点突变。Objective To develop a rapid method based on ARMS, named four primers allele-specific PCR(4p-AS PCR), to detect the most common non-deletional α-thalassemia mutation Hb Constant Spring(Hb CS) by PCR technique. Methods The 4p-ASPCR was used to detect the Hb CS mutation of α-thalassemia in 38 DNA samples of Hb H disease patients and using PCR-RE and DNA sequencing to confirm the results. Results Among the 38 Hb H disease patients 15 cases was revealed to carry Hb CS, 16 cases were deletional Hb H, and 7 cases need to be defined.Conclusion A simple, rapid and reliable method, named 4P-ASPCR, to detect Hb CS mutation have been developed. It is also may be useful in screen other point mutations such as Hb Quong Sze.

关 键 词：Α地中海贫血 聚合酶链反应 非缺失型突变 血红蛋白H病 

分 类 号：R446.9[医药卫生—诊断学]