| 导致人视网膜色素变性的RPGR基因突变 |
| |
| 引用本文： | 刘立.导致人视网膜色素变性的RPGR基因突变[J].复旦学报(自然科学版),1998,37(4):423-427. |
| |
| 作者姓名： | 刘立 |
| |
| 作者单位： | 复旦大学(刘立，金磊，刘木根，魏勇，柴建华)，上海市闸北区眼科医院(刘又鄂) |
| |
| 基金项目： | 国家科委八六三高科技项目，国家自然科学基金 |
| |
| 摘 要： | 用ＰＣＲ－ＳＳＣＰ和ＤＮＡ测序的方法在两个ＸＬＲＰ家系ＲＰＧＲ基因的１２号和９号外显子内各发现一个未报道的突变。这两个突变引起了严重的视网膜色素变性。
|
| 关 键 词： | 视网膜色素变色 RPGR 突变 SSCP 基因 |
Mutations in the RPGR Gene Responsible for Retinitis Pigmentosa |
| |
| Liu Li, Jin Lei, Liu Mugen, Wei Yong, Liu Youe, Chai Jianhua.Mutations in the RPGR Gene Responsible for Retinitis Pigmentosa[J].Journal of Fudan University(Natural Science),1998,37(4):423-427. |
| |
| Authors: | Liu Li Jin Lei Liu Mugen Wei Yong Liu Youe Chai Jianhua |
| |
| Abstract: | Mutants were screened by PCR-SSCP and DNA sequencing in two XLRP pedigrees. Two novel mutation sites were identified in exon 12 and 9 of RPGR gene respectively.A 1-bp deletion in exon 12 caused a premature arrest after 499 amino acids due to a frameshift change, resulting in a truncated protein with six abnormal C-terminal amino acids. A nonsense mutation in exon 9 changed codon 333 to a terminal one and resulted in a truncated protein of only 332 residues. The two mutations caused severe retinitis pigmentosa in the families. |
| |
| Keywords: | retinitis pigmentosa RPGR mutation SSCP DNA sequencing |
| 本文献已被 CNKI 维普 等数据库收录！ |
