1.
Acta Academiae Medicinae Sinicae
;
(6): 205-208, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-230003
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).</p><p><b>METHODS</b>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.</p><p><b>RESULT</b>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.</p><p><b>CONCLUSION</b>These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.</p>