腓骨肌萎缩症基因重复异常的检测

Detection of abnormal gene duplication in Charcot-Marie-Tooth disease

目的应用分子生物学方法对腓骨肌萎缩症(CMT)患者进行外周髓鞘蛋白(PMP22)基因重复异常的检测。方法应用多聚酶链反应(PCR)加双酶切的方法,对临床上诊断为腓骨肌萎缩症14个家系的先证者和47例散发患者及20例正常人进行基因重复异常研究,根据有无1760bp大小的酶切片断来判断是否为PMP22基因重复异常。结果13个家系检测出PMP22基因重复异常,占所收集家系的92.86%;28例散发者检出PMP22基因重复异常,占散发病例59.57%。结论PCR-双酶切法检测CMT基因重复异常比较快速、简单、易操作,目前为CMT1A型基因诊断首选方法。

Objective To detect abnormal gene duplication in patients with Charcot-Marie-Tooth disease on the basis of molecular genetic level. Method Polymerase chain reaction combined with restriction enzyme digestion was used to detect abnormal gene duplication of 14 probands of CMT families and 47 sporadic patients and 20 controis. Results 41 patients were identified to have the 1760bp novel junction fragments,and were diagnosed as CMT1A. The remainder and 20 controls had no novel junction fragments. Conclusion Detection of novel junction fragments by polymerase chain reaction combined with restriction enzyme digestion is rapid,simple and had good specificity, so it can be used as a primary screening in the gene diagnosis of CMT1A.