Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases
10.3760/cma.j.issn.0253-3758.2012.05.010
- VernacularTitle:中国散发性先天性心脏病患者金属蛋白酶Tolloid样1基因突变的分析
- Author:
Jian LI
1
;
Jian-Dong DING
;
Xiang FANG
;
Hua ZHANG
;
Ruo-Long ZHENG
;
Jun-You CUI
;
Chun-Heng GAO
;
Dian WANG
;
Gen-Shan MA
Author Information
1. 东南大学医学院附属江阴医院
- Keywords:
Heart defects,congenital;
Metalloproteases;
Mutation
- From:
Chinese Journal of Cardiology
2012;40(5):402-405
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore whether there are gene mutations of Tolloid-like 1 ( TLL-1 ) gene in Chinese patients with sporadic congenital heart disease (CHD).Methods One hundred and fifteen patients with sporadic CHD were selected as CHD group.One hundred and two age and gender-matched healthy people were recruited as control group.After amplifying the exon 10 of the TLL-1 gene by polymerase chain reaction,the polymerase chain reaction products were purified,sequenced and analyzed in order to investigate the TLL-1 gene mutation.Results An insertion mutation of base A in the exon 10 of TLL-1 gene was identified in 7 out of 115 CHD patients,including 3 patients with atrial septal defect,2 patients with ventricular septal defect,1 patients with patent ductus arteriosus and 1 patients with complex CHD,the total mutation rate was 6.1％ in CHD group and 0 in control group ( P ＜ 0.01 ).Conclusions TLL-1 gene mutation with an insertion mutation of base A in exon 10 is often in Chinese patients with various CHD.The underlying pathogenesis between TLL-1 gene mutation and occurrence of congenital heart disease in Chinese people remains unclear and warrants further investigations.
