中国实用内科杂志2012，Vol.32Issue(5)：366-368,3.
Alport综合征一个家系基因分析研究
Study of gene mutation in one pedigree with X-linked dominant inherited Alport's syndrome
郑昇 1徐敏 2司锘 3张曼娜 2崔斌 3李小英 4徐晨2
作者信息
- 1. 上海交通大学医学院组织胚胎学教研室,上海200025
- 2. 上海市内分泌代谢病研究所,上海200025
- 3. 上海交通大学医学院附属瑞金医院内分泌代谢科,上海200025
- 4. 北京协和医科大学遗传研究所,北京100730
- 折叠
摘要
Abstract
Objective To determine mutation of COLA A5, the pathogenic gene,via performing pedigree analysis on Alport's syndrome in Shanghai. Methods The genomic DNA was extracted from 29 subjects in a pedigree. Corresponding primers were synthesized for cDNA sequencing of blood and cutaneous tissue in 29 subjects and 100 normal controls. Results The 5G > A mutation at highly conserved region of c.609 +5G > A in COLAA5 gene,although lack of literature documentation, was detected in patients with Alport's syndrome,but not in 100 normal controls. Also revealed was the inability of COL4A5 mRNA to translate in a normal manner. By contrast,the documented regions of COL4A5 gene were absent in these pedigree members. Conclusion The 5G > A mutation in c. 609 + 5Gm,the highly conserved region,is found to be associated with splicing errors of CO14A5 gene,which in turn leads to inability of normal translation of mRNA.关键词
Alport综合征/COL4A5基因/突变/胶原Key words
Alport's syndrome/COL4A3 gene/mutation/collagen分类
医药卫生引用本文复制引用
郑昇,徐敏,司锘,张曼娜,崔斌,李小英,徐晨..Alport综合征一个家系基因分析研究[J].中国实用内科杂志,2012,32(5):366-368,3.
