APPLICATION OF MODERN MOLECULAR GENETIC METHODS FOR THE DIAGNOSIS OF COMPOUND HETEROZYGOUS GENOTYPES IN PATIENTS WITH CYSTIC FIBROSIS

Abstract

Active detection of heterozygous carriers followed by medical and genetic counseling, monitoring with a computer DNA data bank can be a rational and highly effective way to prevent this serious inherited disease. Early diagnosis of Cystic fibrosis (CF) is directly related to a better prognosis for the course of the disease. In turn, prenatal diagnosis and medical and genetic counseling are the main measures to prevent the birth of patients with CF. Combining the efforts of specialists in pediatric clinics, geneticists, molecular biologists, specialists in prenatal diagnosis contributes to a comprehensive solution to the problems facing families with children with CF.