• Corpus ID: 86992274

Mutation screen of pulmonary myocardium development gene pituitary homeobox 2 in Chinese patients with isolated atrial fibrillation

@article{Yigan2011MutationSO,
  title={Mutation screen of pulmonary myocardium development gene pituitary homeobox 2 in Chinese patients with isolated atrial fibrillation},
  author={Li Yigan},
  journal={Shanghai Medical Journal},
  year={2011}
}

• Li Yigan
• Published 2011
• Medicine, Biology
• Shanghai Medical Journal

Objective To screen for the mutations of pituitary homeobox 2(PITX2) gene in Chinese patients with isolated atrial fibrillation and analyze the corresponding clinical characteristics of PITX2 variations.Methods A total of 16 patients with isolated atrial fibrillation and 200 age-matched healthy control subjects were enrolled in the present study.Exons of PITX2 gene were firstly amplified by RT-PCR,and the PCR products were screened by single strand conformation polymorphism analysis;the abnormal patients were subjected to direct sequencing using the dideoxynucleotide chain termination DNA sequencing method.The sequencing results were analyzed by Sequence scanner v1.0.Results We identified a novel intronic variant g.766CA and a novel substitution g.8310CT(c.-150CT) in the 5'UTR areas of PITX2 gene in two permanent atrial fibrillation patients,who were resisted to drug and electrical conversion therapy;they received circumferential pulmonary vein ablation surgery and free of recurrence after one year follow-up.The above 2 novel variants were not seen in the 200 control subjects.Conclusions We have for the first time indentified non-coding variations in PITX2 in Chinese patients with isolated atrial fibrillation,which may provide a new insight for the mechanisms of isolated atrial fibrillation.