[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: Jian Li, Jian-dong Ding, Xiang Fang, Hua Zhang, Ruo-long Zheng, Jun-you Cui, Chun-heng Gao, Dian Wang, Gen-shan Ma
• Journal: Zhonghua xin xue guan bing za zhi (Zhonghua Xin Xue Guan Bing Za Zhi) Vol. 40 Issue 5 Pg. 402-5 (May 2012) ISSN: 0253-3758 [Print] China
• PMID: 22883091 (Publication Type: Journal Article)

Chemical References

• Tolloid-Like Metalloproteinases
• TLL1 protein, human

Topics

• Adolescent
• Adult
• Aged
• Asian People (genetics)
• Base Sequence
• Case-Control Studies
• Child
• Child, Preschool
• Exons
• Female
• Heart Defects, Congenital (genetics)
• Humans
• Male
• Middle Aged
• Mutagenesis, Insertional
• Pedigree
• Tolloid-Like Metalloproteinases (genetics)
• Young Adult