Neurofibromatosis 类型 1 是有外显率的高率的普通正染色体的主导的混乱。它被肿瘤的变化引起压制或基因 NF1,它编码 neurofibromin。neurofibromin 的主要功能是下面调整的由充当激活蛋白质的地岬特定的 GTPase 的 proto-oncoprotein 地岬的生物学的活性。在这研究,我们鉴别与 neurofibromatosis 影响的一个中国家庭打 1。与 NF1 联系的已知的基因 NF1 被连接分析并且由全部编码区域和 NF1 基因的 exon-intron 边界的直接定序学习。NF1 的 R1947X 变化被识别,它在未受影响的家庭成员在中国家庭,然而并非礼品与影响个人一起被共同分离。这是第一份报告,它声明 NF1 的 R1947X 变化可以是为在中国人口的 neurofibromatosis 类型 1 的原因之一。
Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.