title: [Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases].
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.
authors.affiliation: Department of Cardiology, Southeast University Medical College, Jiangyin, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Jian-dong
authors.initials: JD
authors.lastname: Ding
authors.forename: Xiang
authors.initials: X
authors.lastname: Fang
authors.forename: Hua
authors.initials: H
authors.lastname: Zhang
authors.forename: Ruo-long
authors.initials: RL
authors.lastname: Zheng
authors.forename: Jun-you
authors.initials: JY
authors.lastname: Cui
authors.forename: Chun-heng
authors.initials: CH
authors.lastname: Gao
authors.forename: Dian
authors.initials: D
authors.lastname: Wang
authors.forename: Gen-shan
authors.initials: GS
authors.lastname: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D010375:Pedigree; D055394:Tolloid-Like Metalloproteinases / Q000235:genetics*; D055815:Young Adult
chemical_list: D055394:Tolloid-Like Metalloproteinases; C484478:TLL1 protein, human