COMPARATIVE ANALYSIS OF POLYMORPHISM OF THE CFTR GENE IN UZBEK POPULATION

*Fayzullaeva Nigora Yakhyayevna, Musakhodzhaeva Diloram Abdullayevna and
Azizova Zukhra Shukhratovna

ABSTRACT

One of the factors of male infertility is cystic fibrosis. This is a monogenic autosomal recessive disease caused by a
mutation of the cystic fibrosis transmembrane conduction regulator gene, characterized by lesions of the exocrine
glands of vital organs and usually with a severe course and prognosis. The severity of the disease and symptoms
may vary depending on the type of mutation. Different mutations and polymorphisms of the CFTR gene have a
pronounced population specificity, reflecting the genetic processes that are emerging.

Keywords: cystic fibrosis, mutation, gene, polymorphism, population.