Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 402-405, 2012.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-275036
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore whether there are gene mutations of Tolloid-like 1 (TLL-1) gene in Chinese patients with sporadic congenital heart disease (CHD).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>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.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Base Sequence
/
Case-Control Studies
/
Exons
/
Mutagenesis, Insertional
/
Asian People
/
Tolloid-Like Metalloproteinases
/
Genetics
/
Heart Defects, Congenital
Type of study:
Observational study
Limits:
Adolescent
/
Adult
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Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Cardiology
Year:
2012
Document type:
Article