Detection of the C/C-13910 genotype associated with primary adult-type hypolactasia

Abstract

We detected the genotypes of C/T-13910 single nucleotide polymorphism by PCR-SNaPIT™ technology and determined intestinal lactase activity by the lactose tolerance test in 120 apparently healthy young persons to compare the results of genotyping with lactose tolerance testing in ethnically defined groups of the investigative subjects. The lactose tolerance test identified 38 subjects with intestinal lactase deficiency (31.7%) in the total study sample. The frequency of primary adult-type hypolactasia was found to be different in ethnically defined subgroups: 27.8% in the Lithuanian, 57.1% in the Russian and 54.5% in the Polish subgroups. The prevalence of the genotype C/C-13910, associated with primary adult-type hypolactasia, has been estimated to be 42.5% in the total study sample. The rate of the C/C-13910 genotype varied in ethnically defined groups: 44.3 % in Lithuanians, 42.9% in Russians and 27.3% in Poles. The C/C-13910 genotype has been detected in 27 subjects (71.1%) with a low intestinal lactase activity and in 24 subjects (29.3%) with a high lactase activity evaluated by the lactose tolerance test. Results obtained by two adult-type hypolactasia diagnostic methods, molecular genotyping and laktose tolerance test, were in good agreement. Keywords: primary adult-type hypolactasia, single nucleotide polymorphism, genotyping, lactose tolerance test