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: 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.
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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)
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Chemical References |
- Tolloid-Like Metalloproteinases
- TLL1 protein, human
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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
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