RESUMEN
1297C/T polymorphism of CYP4F2 gene was studied in 108 patients with chronic liver diseases. No significant correlation with predisposition to rapid liver cirrhosis was revealed without consideration for cirrhosis etiology (OR=0.93, 95% CI=0.28-2.99, p=0.885). In patients with viral cirrhosis, a tendency to association of 1297T allele genotypes with rapid cirrhosis development was found (OR=6.0, 95% CI=0.28-382.64, p=0.222). At the same time, CYP4F2 1297T allele was associated with mild (Child-Pugh class A-B) cirrhosis (OR=2.9, p=0.044).
Asunto(s)
Ácidos Araquidónicos/metabolismo , Agonistas de Receptores de Cannabinoides/metabolismo , Sistema Enzimático del Citocromo P-450/genética , Endocannabinoides/metabolismo , Cirrosis Hepática/genética , Alcamidas Poliinsaturadas/metabolismo , Adolescente , Adulto , Anciano , Familia 4 del Citocromo P450 , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
Genetic predisposition of an individual patient should be taken in account to choose the proper treatment. Implementation to clinical practice requires the development of rapid, high-throughput, and easy assays intended to detect single nucleotide polymorphisms. A detection kit intended to identify the hemostasis and folate cycle gene mutations G20210A FII, G1691A FV, G10976A FVII, G103T FXIII, C807T ITGA2, T1565C ITGB3, 5G(-675)4G PAI, G(-455)A FGB, C677T and A1298C MTHFR, A2756G MTR, A66G MTRR was suggested in this work. The method is based on the polymerase chain reaction and subsequent melt curve analysis of the complexes of amplicons with specific probe. Three single nucleotide polymorphisms can be identified in one tube using our detection kit that increases the productivity of the analysis in the clinical use. Different types of biological samples (buccal epithelium, saliva, plasma, serum, and urogenital swabs) can be used as the initial material for DNA isolation and further analysis by the method developed in this work.
Asunto(s)
Ácido Fólico/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Polimorfismo de Nucleótido Simple , 5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/genética , Adolescente , Adulto , Factor VII/genética , Ferredoxina-NADP Reductasa/genética , Fluorescencia , Ácido Fólico/metabolismo , Humanos , Integrina beta3/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Persona de Mediana Edad , Adulto JovenRESUMEN
Patients with infectious viral or toxic cirrhosis of the liver participated in complex clinical pathomorphological and molecular-genetic study aimed at the search for markers of predisposition to accelerated liver fibrosis, in which the xenobiotic biotransformation system is involved. The results demonstrate association between CYP2D6 (1846G/A) genotype and rapid cirrhosis development and indicate the necessity of studying the mechanisms underlying this association.
Asunto(s)
Citocromo P-450 CYP2D6/genética , Hepatitis B/genética , Hepatitis C/genética , Hepatitis Alcohólica/genética , Cirrosis Hepática/genética , Hígado/patología , Adulto , Anciano , Progresión de la Enfermedad , Femenino , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Hepacivirus/fisiología , Hepatitis B/complicaciones , Hepatitis B/patología , Hepatitis B/virología , Virus de la Hepatitis B/fisiología , Hepatitis C/complicaciones , Hepatitis C/patología , Hepatitis C/virología , Hepatitis Alcohólica/complicaciones , Hepatitis Alcohólica/patología , Heterocigoto , Homocigoto , Humanos , Hígado/enzimología , Hígado/virología , Cirrosis Hepática/etiología , Cirrosis Hepática/patología , Cirrosis Hepática/virología , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Siberia , Población BlancaRESUMEN
Analysis of variants of exon 7 sequences in cytochrome P450 gene 3A4 in a sample of Caucasoid persons was carried out. The effect of these variants on activity of CYP3A was assessed by the level of cortisol 6beta-hydroxylation. Alleles CYP3A4*5 and *17 were not detected: probably, these mutations are rare and consequently they have little effect on the character of polymorphic distribution of CYP3A4 activity in this population. The incidence of CYP3A4*2 was 5.26%. The 6betaOH-cortisol/cortisol ratio in an individual with CYP3A4*2/*2 genotype was 7.408, which corresponded to "slow metabolizer" phenotype in this sample.
Asunto(s)
Sistema Enzimático del Citocromo P-450/genética , Exones/genética , Hidrocortisona/metabolismo , Mutación/genética , Citocromo P-450 CYP3A , Sistema Enzimático del Citocromo P-450/metabolismo , Cartilla de ADN , Finlandia , Frecuencia de los Genes , Humanos , Hidroxilación , Siberia , Población Blanca/genéticaRESUMEN
Analysis of restriction fragment length polymorphism is proposed for detecting CYP3A43 gene c1047 > T mutation. The incidence of this mutation (CYP3A43*1B allele) was evaluated in 102 europeoid residents of West Siberia and it was found to be 12.25%.
Asunto(s)
Alelos , Hidrocarburo de Aril Hidroxilasas/genética , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Frecuencia de los Genes , Genética de Población , Heterocigoto , Homocigoto , Humanos , Lactante , Masculino , Siberia , Población BlancaRESUMEN
The 6beta-hydroxycortisol/cortisol ratio was measured in 52 children aging 1.1-14.0 years. The maximum increment in this ratio occurred in the age interval of 1.1-2.0 years. During this period, the regression coefficients in the linear (r=0.57; p=0.044) and nonlinear logarithmic models (r=0.56; p=0.049) were similar. At the age of 10-14 years, the examined ratio attained 19.17+/-17.79.