Mutations in the cystic fibrosis transmembrane conductance regulator （CFTR） gene have been implicated in the onset of cystic fibrosis and other clinical respiratory disorders. In the present study, we investigated t...Mutations in the cystic fibrosis transmembrane conductance regulator （CFTR） gene have been implicated in the onset of cystic fibrosis and other clinical respiratory disorders. In the present study, we investigated the role of CFTR variations, poly-T, TG-repeats, and M470V in susceptibility to bronchial asthma and chronic bronchitis in a Chinese population in Jiangsu province, China. A total of 72 bronchial asthma patients, 68 chronic bronchitis pa- tients, and 117 healthy subjects were included in this study. The Tn-TGm haplotype was sequenced and the CFTR variant M470V was detected using restriction fragment length polymorphism （RFLP）. We found that the fre- quency of TS-TG12-V470 in chronic bronchitis patients was 0.07%, which was notably higher than that in healthy subjects （0.01%） and bronchial asthma patients （0.04%）. Thus, the presence of the TS-TG12 haplotype of the CFTR gene is likely to play a role in the development and progression of respiratory conditions, such as chronic bronchitis.展开更多
基金supported by the Key Talent's Subsidy Project in Science and Education of the Jiangsu Province (No. 2007158)
文摘Mutations in the cystic fibrosis transmembrane conductance regulator （CFTR） gene have been implicated in the onset of cystic fibrosis and other clinical respiratory disorders. In the present study, we investigated the role of CFTR variations, poly-T, TG-repeats, and M470V in susceptibility to bronchial asthma and chronic bronchitis in a Chinese population in Jiangsu province, China. A total of 72 bronchial asthma patients, 68 chronic bronchitis pa- tients, and 117 healthy subjects were included in this study. The Tn-TGm haplotype was sequenced and the CFTR variant M470V was detected using restriction fragment length polymorphism （RFLP）. We found that the fre- quency of TS-TG12-V470 in chronic bronchitis patients was 0.07%, which was notably higher than that in healthy subjects （0.01%） and bronchial asthma patients （0.04%）. Thus, the presence of the TS-TG12 haplotype of the CFTR gene is likely to play a role in the development and progression of respiratory conditions, such as chronic bronchitis.
