摘要
目的分析结节性硬化症(TSC)致病基因TSC2突变方式。方法采用聚合酶链反应-单链构象多态性(PCR-SSCP)技术,对TSC一家系4例TSC患者(其中1例疑似)、1例散发性TSC患者外周血TSC2的41个外显子进行检测,并与家系中健康对照组和无血缘关系健康对照组进行比较。结果此1家系中4例TSC患者(包括1例疑似)的TSC2基因外显子33发生了1346丝氨酸(S)→脯氨酸(P)(4037T→C)错义突变,1例散发性TSC患者及两健康对照组未检测到TSC2基因突变。结论在TSC患者中TSC2外显子33错义突变(1346S→P,4037T→C)是一种尚未报道的新发现的基因突变方式。
Objective To analyse the mutation of pathogenic gene TSC2 in tuberous sclerosis complex （TSC）. Methods Using polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP） , all the 41 exons of TSC2 gene were analyzed in 4 TSC cases（include 1 suspect case） from one family and 1 sporadic TSC case ,and compared with the kin familial controls and kinless normal controls. Results Missense mutation on exon33 1346S→ P （4037T→C） of TSC2 was found in 4 familial cases, and no mutation of TSC2 gene was found in the sporadic case and all the health controls. Conclusion Missense mutation on exon33 （1346S→P ,4037T→C ）is a new discovery in TSC2 gene of patients with TSC.
出处
《临床神经病学杂志》
CAS
北大核心
2008年第3期183-185,共3页
Journal of Clinical Neurology
