Saw S M, Taskar V
Johns Hopkins University School of Hygiene and Public Health.
Md Med J. 1996 Apr;45(4):305-7.
Cystic fibrosis is a lethal autosomal recessive disorder. In 1989, the cystic fibrosis gene was isolated on chromosome 7. Positional cloning, linkage analysis, saturation cloning, and chromosome jumping enabled the isolation and cloning of the gene that encodes the cystic fibrosis transmembrane conductance regulator. Current work focuses on the safe, efficient delivery of a functional cystic fibrosis transmembrane conductance gene to patients who are afflicted with cystic fibrosis and the expression of the gene in somatic cells to correct the genetic defect and restore chloride channel function. It is hoped that successful gene therapy will be a feasible and cost-efficient approach that will lead to a cure.
囊性纤维化是一种致命的常染色体隐性疾病。1989年，囊性纤维化基因在7号染色体上被分离出来。定位克隆、连锁分析、饱和克隆和染色体步移技术使得编码囊性纤维化跨膜传导调节因子的基因得以分离和克隆。目前的工作重点是将功能性囊性纤维化跨膜传导基因安全、高效地递送至患有囊性纤维化的患者体内，并使其在体细胞中表达，以纠正基因缺陷并恢复氯离子通道功能。人们希望成功的基因治疗将成为一种可行且具有成本效益的方法，从而实现治愈。
