PP145. HYPOLACTASIA-ASSOCIATED POLYMORPHISM IN LACTASE GENE LCT C/T-13910 IN POPULATIONS OF RUSSIA AND NEIGHBORING COUNTRIES
SOKOLOVA M.V. 1,2, Rebrikov D.V. 3, Borodina T.A.4, Kozlov A.I.1, Borinskaya S.A.1, Yankovsky N.K1 1. Institute of General Genetics RAS, Gubkin str. 3, 119991 Moscow, Russia. 2. Moscow State University, Biological faculty, Dept. of Genetics, 119992 Moscow, Russia 3. "DNA-Technology" research-and production corporation Moscow, Russia 4. Max Planck Institut fur Molekulare Genetik, 14195 Berlin-Dahlem, Germany e-mail: sokmaria@yahoo.com
*Corresponding Author:
page: 112

Abstract

Adult-type hypolactasia limits the use of fresh milk due to lactase non-persistence that causes lactose intolerance. As found recently, the CC genotype of the DNA variant -13910 T/C upstream of the LCT gene is associated with lactase non-persistence [Enattah et al., 2002]. Frequency of hypolactasia varies from 2-3% in North West Europe to more than 90% in East Asia. The aim of this study was to test the applicability of the LCT C/T(-13910) variant as a diagnostic DNA test for adult-type hypolactasia in Russian populations and to determine allele and genotype frequencies Russians (58%-73%), Ukrainians(64%), Belorussians(62%), Komi (64%), Udmurt (75%), and Chukotka Natives (94%), Pamir mountain-dwellers (93%). The frequencies of the ?/? genotype in the studied populations are close to the published data on the hypolactasia frequencies in the same populations, and correspond to the pattern of the general geographic variability of the hypolactasia frequencies in human populations of Eurasia. The DNA diagnostics for carrying the C/C genotype of the locus ?/? -13910 in individuals from populations of the European part of Russia can be considered a predictive test for development of the primary adult hypolactasia long before its phenotipical detection. The practical use real-time PCR assay as a diagnostic test allow rapid to determine the genotype. Application of this method of diagnostics will be an important step toward development of the individualized medicine in Russia.




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