Identification of TSC2 Mutation in Twin Patients with Tuberous Sclerosis Complex
ZHANG Xiang-chun
TIAN Rui-dong
HUANG Chang-zheng
LIU Mu-gen
WANG Qiu-fen
Abstract：Objective:To identify gene mutations in twin patients with tuberous sclerosis com-plex( TSC) and their parents .Methods:All the coding region , including all exons and exon-in-tron boundaries of TSC 2 were amplified by polymerase chain reaction .The products were analyzed by direct DNA sequencing .The gene of their parents and 500 unrelated healthy Chinese individuals were analysed by RFLP ( restriction fragment length polymorphism ) to search for the mutation and to test whether the mutation co-segregates with the disease .Results:One nucleotide G in 2032 TSC2 was substituted by A , which caused a missense mutation p .A678 T in both of the twin pa-tients.RFLP results showed that their father and three of the 500 normal individuals carried the c . G2032A mutation.Conclusion:A novel missense mutation p .A678T was identified in Chinese pa-tients with Tuberous Sclerosis Complex , which expand the mutation spectrum of TSC 2 mutations which showed the correlation with TSC .
Keywords：Tuberous sclerosis complexTSC geneMissense mutation
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 116-120 )