运用单管多重聚合酶链反应检测海南黎族人群中三种缺失型α-珠蛋白生成障碍性贫血基因  

DETECTION OF DELETIONAL DETERMINANTS OF α-THALASSEMIA IN LI PEOPLE IN HAINAN PROVINCE BY A SINGLE TUBE MULTIPLEX POLYMERASE CHAIN REACTION METHOD

作　　者：刘敬忠[1] 欧采莹[2] 王立荣[1] 肖白[1] 黄莉嘉 周艳[1] 陈历昌[2] 

机构地区：[1]首都医科大学附属北京朝阳医院临床检测中心,100020 [2]海南医学院附属医院儿科

出　　处：《中华医学杂志》2004年第8期659-662,共4页National Medical Journal of China

基　　金：北京市自然科学基金资助项目 (JS960 0 4)

摘　　要：目的　建立单管多重聚合酶链反应 (mPCR)技术并将其运用于筛查海南黎族人群中 3种最常见的缺失型α 珠蛋白生成障碍性贫血基因 (α 地中海贫血基因 ,简称α 地贫基因 )。方法　在研究成功检测 3种α 地贫基因 ,即 SEA、-α3 .7、-α4.2 的 3个PCR反应的基础上 ,建立并优化单管mPCR反应的条件 ,检测了 4 0例已知基因型的α 地贫患者基因 ,并筛查、诊断了 116份海南黎族人血标本。结果　运用新建立的单管mPCR检测 4 0例α 地贫患者DNA ,所得基因型与运用 3个分别的PCR技术及Southern印迹杂交技术所得到的结果一致。在 116份海南黎族人中 ,检出 -α3 .7和 -α4.2缺失型基因的携带频率高达 38.0 % ,且 -α4.2 稍高于 -α3 .7。但在该组标本中没测到 SEA。结论　单管mPCR技术准确率及灵敏度都很高 ,且简便易行。海南黎族人群 -α3 .7和 -α4.2 携带频率居国内最高。OBJECTIVE TO DEVELOP A SINGLE TUBE MULTIPLEX POLYMERASE CHAIN REACTION TECHNIQUE(MPCR) AND USE IT TO SCREEN 3 DELETIONAL Α-GLOBIN GENES, NAMELY -Α 3.7,-Α 4.2(SINGLE GENE DETETION), AND -- SEA(SOUTH EAST ASIA DOUBLE GENE DELETION) IN THE LI PEOPLE IN HAINAN PROVINCE. METHODS BASED ON PREVIOUSLY DEVELOPED 3 SEPARATE PCR METHODS USED TO DETECT THE -Α 3.7,-Α 4.2,-- SEA RESPECTIVELY, A SINGLE TUBE MPCR WAS INVESTIGATED, OPTIMIZED, AND USED TO DETECT THE GENOTYPES OF 40 SAMPLES FROM WELL-KNOWN Α-THALASSEMIA PATIENTS AND 116 NON-RELATIVE INDIVIDUALS OF LI NATIONALITY IN HAINAN PROVINCE. RESULTS THE RESULTS OF THE 40 SAMPLES DETECTED BY MPCR WERE THE SAME AS THOSE BY THE 3 SEPARATE PCR METHODS. AMONG THE 116 SAMPLE, THE COMBINED INCIDENCE OF -Α 3.7 AND -Α 4.2 WAS FOUND TO BE AS HIGH AS 38.0%, AND THE -Α 4.2 GENOTYPE WAS MORE FREQUENT THAN THE -Α 3.7 GENOTYPE IN THE LI PEOPLE. NO -- SEA DELETION WAS FOUND IN THE LI PEOPLE. CONCLUSION THE MPCR TECHNIQUE SHOWS A GOOD SENSITIVITY AND SPECIFICITY. THE HAINAN LI PEOPLE HAS THE HIGHEST INCIDENCE OF -Α 3.7 AND -Α 4.2 AMONG CHINESE.

关 键 词：聚合酶链反应 海南 黎族人群 缺失型α-珠蛋白生成障碍性贫血 基因缺失 常染色体隐性遗传病 

分 类 号：R556[医药卫生—血液循环系统疾病]