基于PCR-RDB的地中海贫血基因复合型检测方法的临床应用  

Clinic application of a compound method of thalassemia gene diagnosis based on PCR-RDB

作　　者：骆明勇[1] 胡听听 王继成[1] 袁腾龙 张艳霞[1] 王奕霞[1] 梁驹卿[1] 

机构地区：[1]广东省妇幼保健院医学遗传中心,广东省妇幼代谢与遗传病重点实验室,广东广州511442

出　　处：《中国优生与遗传杂志》2016年第4期22-24,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省省级科技计划项目(2013B022000019和2014A020212246);广东省医学科学技术研究基金(A2014094)

摘　　要：目的探讨基于PCR结合反向斑点膜杂交技术(PCR-RDB)的地贫基因复合型检测方法的准确性、稳定性、临床应用优势及前景。方法收集165份已知不同地贫基因型和地贫阴性血液标本,采用基于PCR-RDB的地贫基因复合型检测方法进行检测;另外与现有临床地贫基因分开检测的方法进行对比实验,采用两种方法同时检测300例血液和干血斑标本。结果 165份血液标本的PCR-RDB复合型检测方法的结果和已知基因型完全一致。两种方法对比实验的检测结果也完全一致。300份临床标本中检测结果为:地贫阴性标本235例,占78.3%;地贫阳性标本65例,占21.7%,阳性标本中缺失型α地贫33例,非缺失型α地贫2例,β地贫25例,α地贫复合β地贫标本5例。结论基于PCR-RDB的地贫基因复合型检测方法可以准确、稳定性地进行地贫缺失型突变和点突变的检测,具有实验操作更加简捷和方便等优点,并提高了检测通量,在临床和地贫防控工作中将得到广泛的推广应用。Objective：To investigate the performance,clinical application advantages and prospect of a compound method of thalassemia gene diagnosis based on PCR-RDB. Methods：165 specimens including different thalassemia genotypes and wildtype specimens were collected. Their thalassemia gene mutations were detected by the compound PCR-RDB. A contrast experiment study of the compound method and the current clinical thalassemia gene detection kit was performed with detecting the thalassemia gene mutations of 300 specimens including blood and dried blood spots by the two methods. Results：The thalassemia gene results of the 165 specimens detected by the compound PCR-RDB were the same as the known genotype. The contrast experiment results of the compound PCR-RDB and the current clinical thalassemia gene detection kit were the same. The detection results of the 300 specimens were follows：235 specimens were wild-type and 65 specimens were positive of thalassemia gene mutation,they were accounted for 78.3% and 21.7% respectively. In 65 positive specimens,33 specimens were deletionalα-thalassemia,2 specimens were nondeletionalα-thalassemia,25 specimens were β-thalassemia and 5 specimens were α-thalassemia combined with β-thalassemia. Conculusion：The compound method of thalassemia gene diagnosis based on PCR-RDB can accurately and stably detect deletional mutations and point mutations in thalassemia. And the detetion throughput was also improved. The method will be used widely in clinical and thalassemia prevention and control work.

关 键 词：地中海贫血 基因突变 基因诊断 反向斑点膜杂交 

分 类 号：R556.61[医药卫生—血液循环系统疾病]