Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae · 2007
[Analysis of gene mutations in two patients with tuberous sclerosis complex].
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Yuan Cheng-Da, Chang Xiao-Li, Wu Yao-Qun, Liu Qin, Gao Min, Xiao Feng-Li, Zhou Fu-Sheng, Yang Sen, Liu Jian-Jun, Zhang Xue-Jun
Аннотация
OBJECTIVE: To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).
METHODS: All the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing.
RESULT: Two TSC2 gene mutations (c. 268C > T, c. 5 227C > T) were identified in two patients, but not in their family members and in 100 unrelated population-matched controls.
CONCLUSION: These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.
METHODS: All the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing.
RESULT: Two TSC2 gene mutations (c. 268C > T, c. 5 227C > T) were identified in two patients, but not in their family members and in 100 unrelated population-matched controls.
CONCLUSION: These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.