Climatic and geographical features always influenced on adaptation to the environment as well as the development level of economy and culture. The formation of certain food behavior in population determined fixation of specific gene alleles and mutation. They were responsible for digestion a typical food for the population. At the moment there is information about such genetic features as metabolism of proteins, carbohydrates and fats for many races and nations. But a few studies are about causes of prevalence differences of gene polymorphisms of folate cycle in the world's populations. The main objective was to explore 677C>T mutation MTHFR gene among Russian and Buryat to compare it with ones in other populations. The total of 399 children and adolescents (200 Russians and 199 Buryats) were involved in this study. Genotyping of MTHFR 677C>T was performed by PCR-RT. We used soft "STATISTICA 8.0" to compare results. As a result, T-allele frequency was 30 % in Russians and 21,1 % in Buryats. We found significant differences of prevalence of polymorphism 677C>T between studied groups (p = 0.011). Also we found significant difference between Russian and British (p = 0.054), French (p = 0.0263), Spanish (p < 0.0001), Italian (p < 0.0001) and Greek samples (p = 0.0454). The Buryat group had significant differences with Chinese (p < 0.0001), Korean (p < 0.0001), Mongolian (p < 0.004), Japanese (p < 0.0001), Kazakh (p = 0.0198) samples and two samples of Hans (p < 0.0001; p = 0.0390).
Генетика и протеомикаWe determined three isoforms of APOE protein differing by amino acid residues in 112 and 158 positions: aroE2 (112Cys, 158Cys), apoE3 (112Cys, 158Arg) and aroE4 (112Arg, 158Arg). /ε3 -16.4 %, ε3/ε4 -19.2 %, ε2/ε4 -82.7 %, ε4/ε4 -4 Protein isoforms differed in the degree of effectiveness of protein interaction with the liver cell receptors during cholesterol transport. We studied the prevalence of genotypes and alleles of polymorphic variant ε2/ε3/ε4 of apolipoprotein E gene in a group of healthy Russian adolescents living on a territory of Eastern Siberia (Irkutsk region). 73 healthy Russian adolescents (13-18 years) were included in the study. A biochemical analysis of blood lipids was carried out for each adolescent. We also genotyped the carriage of genotypes and alleles of polymorphic variant ε2/ε3/ε4 of apolipoprotein E gene. In the study the most frequently met genotypes were: ε3/ε3 in 57.5 % of cases, the genotype ε2
The problem of overweight and obesity is one of the most urgent health issues in the world. 13% of girls and 21% of boys aged 11 suffer from overweight in the Russian Federation.The main causes of pubertal obesity are endocrine pathology, lifestyle and genetic disorders including mutation and polymorphisms of different metabolic pathways. Leptin produced in adipose tissue participates in reproduction regula-tion, glucose homeostasis, bone formation, etc. These effects are provided by leptin receptors coding LEPR gene. Q223R (rs1137101) polymorphism is associated with an increased serum level of leptin and overweight. There is no exact information about association between this polymorphism and obesity of adolescent females. The objective was to reveal LEPR Q223R polymorphism association between overweight and obesity in adolescent females.123 Caucasian adolescent females were involved in this study. All samples could be separated into two groups: the girls with normal weight (SDS BMI ±1.0; controlgroup), girls with overweight and obesity (SDS BMI≥ +1.0–2.0; studied group). Anthropometric measurements (weight, height, waist and hip circumference, body fat percentage) were taken, and genotyping was performed using polymerase chain reaction with electrophoresis detection.G-allele frequency was 43.1% in control and 40% in the clinical group. We found no significant differences of the prev-alence of polymorphism Q223Rbetween the studied groups (р=0,862). Furthermore, there was no association between the carriage of AG and GG with weight, BMI, body fat percentage, waist and hip circumference in both groups (р> 0.05).We have not found any association between LEPR Q223R and overweight and obesity in adolescent females.
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