Corelation of collagen type Ⅳ alpha 1 (COLAA1) gene with leukoaroaiosis in Chinese population
10.3760/cma.j.issn.1671-8925.2016.08.007
- VernacularTitle:COL4A1基因与脑白质疏松的关系研究
- Author:
Wenli SHI
1
,
2
;
Guoqiang WANG
;
Yanjuan DONG
;
Fei CHEN
;
Yongqin LI
;
Yonghua HUANG
Author Information
1. 100700北京,陆军总医院神经内科
2. 050082石家庄,解放军白求恩国际和平医院神经内科
- Keywords:
Leukoaraiosis;
Collagen type Ⅳ alpha 1 gene;
Target capture sequencing
- From:
Chinese Journal of Neuromedicine
2016;15(8):794-797
- CountryChina
- Language:Chinese
-
Abstract:
Objective Leukoaraiosis (LA) is a set of magnetic changes with white matter diffuse abormality,and it can be caused by brain small vessel disease.Recent studies showed that collagen type Ⅳ alpha 1 (COL4A 1) gene mutation as a single-gene disorder could cause cerebral small vessel disease.We aims to analyze the role of COL4A 1 gene mutations in Chinese patients with LA by targeted gene capture and high throughout sequencing technique.Methods Eleven patients with LA,conformed by imaging in our hospital from March 2012 to September 2014,were chosen in our study;COL4A 1 gene mutations were screened using targeted genomic capture and high throughout sequencing strategy.Missense mutation of SNP loci were verified by Sanger method.Biological information of mutation loci were studied by means of fumtional biology methods.Results A total of 1691 mutation sites were found,including two missense mutations (rs3742207 and rs9515185) and six synonymous mutations.By functional analysis,these two missense mutations showed no effect on protein structure or function.Conclusion COL4A 1 gene may be irrelevant with incidents of LA in Chinese patients.
