Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

摘要: Neurofibromatosis type 1 (NF1), characterized by skin neurofibromas and an excess of cafe-au-lait spots, is due to mutations in the neurofibromin (NF1) gene. Identifying genetic defect individuals with disease represents a significant challenge because gene extremely large high incidence sporadic across entire ranging from single nucleotide substitutes deletions. In present study, we have used combination techniques (heteroduplex analysis, sequencing, loss heterozygosity quantification dosage) define 68 cohort 107 NF1 Taiwanese patients Chinese origin. Fifty-eight were initially identified using heteroduplex analytical confirmed sequence analysis. A further five direct analysis alone. The reminders shown carry deletions demonstrating that was dosage measurements quantitative-PCR techniques. Mis-sense, non-sense, frame-shift or splice-site which majority (45/68) novel nature. detection rate various types mutation detected are consistent published data involving both studies other ethnic backgrounds.