摘要
目的:建立DNA芯片检测技术,为地中海贫血基因检测诊断提供新的方法。方法:2001~2002年间广州市第二人民医院门诊病人中初筛查为地中海贫血可疑者110例,正常对照60例,应用DNA芯片检测技术进行地中海贫血基因检测。结果:60例α-地中海贫血诊断结果为:-SEA型45例(占75.00%),-α^3.7型11例(占18.33%);-α^4.2型2例(占3.33%),未知类型2例(占3.34%)。50例β-地中海贫血诊断结果为:41/42型21例(占42.00%),-28型9例(占18.00%),654型8例(占16.00%),17型5例(占10.00%),71/72型2例(占4.00%),-29型2例(占4.00%),27/28型1例(占2.00%),43型1例(占2.00%),未知类型1例(占2.00%)。结论:应用DNA芯片检测技术进行地中海贫血基因检测,从抽提DNA到出诊断结果总共只需3h,可达到快速诊断的要求;常见的基因类型都能准确诊断,与传统方法比较,实验结果稳定,符合率满意;实验操作简单,易于标准化,显示出较好的应用前景。
Objective: To explore the techniques of genetic diagnosis to thalassemia using DNA microarray. Methods: The thalassemia gene organization and structure of sample were analyzed by DNA microarray technology. The subjects group consisted of 110 people was tested from The Second People Hospital of Guangzhou from 2001 to 2002, 60 people in control group. Results: 45 (75.00%) of 60 cases with α thalassemia were in -SAE , 11 ( 18. 33% ) in - α3.7, 2 (3.33%) in - α4. 2, respectively. 50 cases with β thalassemia, 21 (42.00%) were in 41/42, 9 (18.00%) were in -28, 8 (16.00%) were in 654, 5 (10.00%) were in 17, 2 (4. 00%) were in 71/72, 2 (4.00%) were in - 29, 1 (2.00%) was in 27/28, 1 (2.00%) was in 43, 1 (2. 00%) was unknown , respectively. Conclusion: DNA microarray technique is rapid and effective in determining thalassemia. Compared with the traditional methods, it has the advantages of simplicity , standard and shorter time.
出处
《中国妇幼保健》
CAS
北大核心
2006年第14期2002-2003,共2页
Maternal and Child Health Care of China