RESUMEN
Xenobiotic-metabolizing genes (e.g., Cytochromes P450, GST, NAT2, and NQO1), folate metabolism genes (e.g., MTHFR and MTRR), and major histocompatibility complex genes (e.g., HLA-DQA1) play multiple roles in the organism functioning. In addition, AB0 is the most clinically significant high-polymorphic gene in transfusion and transplantation medicine. Epidemiological data show that allele frequencies of these genes exhibit ethnic and geographic diversity. Besides, little is known about frequency distribution of the major polymorphic variants in native Russians. We developed biological microchips that allow us to analyze a spectrum of allelic variants in 12 different genes: CYP1A1, CYP2D6, CYP2C9, CYP2C19, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0. Using this composite methodological platform we have studied 352 DNA samples from healthy native Russian volunteers. The allelic frequencies of gene polymorphisms obtained are close to allelic frequencies observed in some European populations, as published earlier. These data were used in comparative studies to determine predisposition to tuberculosis, lymphoma, and leukemia in adults and to childhood acute leukemia. The HLA-DQA1 and AB0 allele frequencies were used to estimate forensic population parameters for these loci.
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Frecuencia de los Genes , Antígenos HLA-DQ/genética , Oxigenasas de Función Mixta/genética , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Oxidorreductasas/genética , Población Blanca/genética , Adolescente , Adulto , Hidrocarburo de Aril Hidroxilasas/genética , Arilamina N-Acetiltransferasa/genética , Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP2C19 , Citocromo P-450 CYP2C9 , Citocromo P-450 CYP2D6/genética , Femenino , Ferredoxina-NADP Reductasa/genética , Genética de Población , Glutatión Transferasa/genética , Cadenas alfa de HLA-DQ , Humanos , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , NAD(P)H Deshidrogenasa (Quinona)/genética , Polimorfismo Genético , Federación de Rusia/epidemiología , Xenobióticos/metabolismo , Adulto JovenRESUMEN
Spatial and temporal variation of selection intensities has been analyzed using published data on Crow's indices in 278 human populations, representing various anthropological types, religions, cultures and a wide spectrum of environmental conditions. Statistical analysis has shown that populations with different types of economy have different adaptive strategies. In tribal populations both components of selection-differential fertility and differential mortality-have equal contributions, vary according to ecological factors and show no decline with time. Urban populations of the industrially developed countries show dramatic selection relaxation; the second component becomes negligible due to a sharp decrease in childhood mortality; fertility and its variance are reducing due to cultural factors (family planning).
