结节性硬化症的基因突变研究

Gene mutation detection for a patient with tuberous sclerosis complex

目的研究1例中国汉族人结节性硬化症TSC1和TSC2基因的突变情况。方法采用聚合酶链反应(PCR)扩增该例结节性硬化症患者、家族中的正常人以及100名健康对照者的TSC1和TSC2基因的全部外显子,并进行DNA测序分析。结果该例患者TSC1基因第15外显子存在C.1884-1887del AAAG(P.Leu628Leu fs X23)移码突变,引起读码框移位,并在其后第23位氨基酸处提前出现终止密码子TGA。家族中的正常成员及100名无关正常对照未检测出该位点突变。结论 TSC1基因的新缺失突变C.1884-1887del AAAG可能是导致患者临床发病的主要原因,该突变为新突变。

Objective To identify pathogenic mutation of the TSC1 and TSC2 gene in a Chinese Han patient with tuberous sclerosis complex.Methods All the coding exons of TSC1 and TSC2 genes of the patient,unaffected members in the family and 100 unrelated population-matched controls,were amplified by polymerase chain reaction.The products were analyzed by sequencing.Result One frame-shift mutation C.1884-1887 del AAAG（P.Leu628 Leu fs X23） from the patient was detected in the exon 15 of the TSC1 gene causing a reading frame shift and an early termination codon TGA followed by 23 amino acids.This novel mutation was not found in unaffected family members and 100 unrelated healthy controls.Conclusion The novel frame-shift mutation C.1884-1887 del AAAG in the TSC1 gene may be the underlying cause of this case with tuberous sclerosis complex.