α地中海贫血的基因芯片快速诊断技术研究  

Study on microarray technique for rapid genetic diagnosis of α-thalassemia

作　　者：张力[1] 区小冰[1] 余一平[1] 

机构地区：[1]广州市儿童医院,510120

出　　处：《中国优生与遗传杂志》2007年第6期22-24,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的建立快速,准确,便于推广应用的诊断我国常见的3种缺失型(--SEA,-α4.2,-α3.7),2种非缺失型(HbCS,HbQS)α地中海贫血(α地贫)的基因芯片诊断技术。方法自行设计6对聚合酶链式反应(PCR)引物,优化PCR反应条件,运用PCR,基因芯片杂交,荧光扫描技术,根据芯片上荧光信号的有无,位置及强弱检测3种缺失型,2种非缺失型α地贫。结果成功地检测中国人常见的3种缺失型及2种非缺失型α地贫杂合子,纯合子以及双重杂合子,其检测结果与Southern blotting分析或直接测序结果一致。完成了65例α地贫样本的基因诊断。结论本研究所建立的检测α地贫基因芯片技术准确,可靠,重复性好,无需接触放射性同位素,便于胎儿α地贫基因产前诊断及人群中α地贫基因的筛查。Objeαive： To develop a simple and reliable microarray technique for diagnosis of three commonest deletional （ - -^SEA, - α^4.2 , - α^3.7） and two non - deletional （HbCS, HbQS ） α -thalassemia gene in China. Methods： Six pairs of polymerase chain reaαion （PCR） primers were designed by ourselves and used them to amplify the - - ^SEA gene, -α^4.2 gene and its normal control gene, -α^3.7 gene and its normal control gene, and two non - deletional α - thalassemia gene respeαively under an optimized PCR condition followed by microarray hybridization and fluorescent scanning. Finally, three commonest deletional and two non - deletional α - thalassemia gene were identified according to the power of the fluorescence. Results ： Heterozygotes, homozygotes and dual heterozygntes of the three deletional and two non - deletional a - thalassemia mutations were successfully deteαed by the developed technique. The results were identical to those from Southern blotting analysis and DNA sequencing. Sixty - five cases of α - thalassemia were diagnosed by this technique. Conclution： The usage of microarray in identifying α - thalassemia mutations has the advantages of simplicity, reproducibility and high through - put. This technique does not use radioisotope and may be suitable for prenatal diagnosis and population screening.

关 键 词：Α地中海贫血 聚合酶链式反应 基因芯片技术 

分 类 号：R556[医药卫生—血液循环系统疾病]