Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is common in Caucasians. Epidemiological data of CF is lacking in China. Cystic fibrosis is a systemic disease mainly affecting exocrine glands and leading to impaired secretory function involving respiratory system, digestive system, sweat glands and reproductive tract. The genotypes and phenotypesSof Chinese CF patients are different from foreign countries. Some mutation sites have not been reported in foreign databases. The frequencies of the two mutations (c.1766+5G>T and c.263T>G) are high. At present, the main clinical characteristics include recurrent cough, bronchiectasis, sputum culture of Pseudomonas aeruginosa, sinusitis, pancreatic insufficiency and malnutrition. Further study of the CFTR gene mutation spectrum in Chinese population, and exploration of the relationship between genotypes and clinical phenotypes according to different clinical features are needed.