Розповсюдження генетично детермінованої гіполактазії дорослого типу у хворих на муковісцидоз, гомозигот за мутацією p.Phe508del

Abstract

Aims. Adult-type hypolactasia (ATH) is the genetically determined most common cause of milk intolerance in children, adolescents and adults and the most common enzyme deficiency in humans. Adult-type hypolactasia is associated with the LCT-13910C/T polymorphism. Estimation of genetic predisposion to ATH of children with CF is primarily question. Methods. DNA from probands blood samples was isolated using a modified salting out method. The PCR products were digested with the restriction enzyme Hinf I and analysed by electrophoresis in a 2 % agarose gel. Results. It was carried out the distribution of 13910C>T of LCT gene in children who were diagnosed CF, homozygous for p.Phe508del. Genotype C/C-13910 is found at 34.9 % of individuals. This genotype cause the complete absence of lactase. Genotype C/T-13910 was indentificated at 55.8 % of people and is associated with low levels of lactase. Genotype T/T-13910 characterized of high activity of the enzyme was delected in 9.3 % of patients. Conclusions. The frequency of adult-type hypolactasia (ATH) associated with polymorphic variant 13910C>T of LCT gene in the group of children with severe cystic fibrosis tends to increase compared with the group of children with mild cystic fibrosis.