RESUMEN
AIM: This study has been performed on a Turkish population with multinodular goiter (MNG) to investigate the thyroid-stimulating hormone receptor (TSHR) gene D727E and P52T polymorphisms. METHODS: DNA samples were isolated from 300 patients with MNG and 142 controls. Polymerase chain reaction-restriction fragment length polymorphism and agarose gel electrophoresis were used. RESULTS: The D727E polymorphism G-allele frequency and the CG and GG genotypes were significantly higher in patients with MNG. However, there was no significant difference in the P52T polymorphism between patients and control subjects. CONCLUSIONS: As a conclusion, the D727E polymorphism G allele may be related to MNG development in the studied population.
Asunto(s)
Predisposición Genética a la Enfermedad , Bocio Nodular/genética , Bocio Nodular/fisiopatología , Polimorfismo Genético , Receptores de Tirotropina/genética , Alelos , Progresión de la Enfermedad , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , TurquíaRESUMEN
This study was conducted in Turkish osteoarthritis patients to determine the frequency of 4G/5G polymorphism genotypes of plasminogen activator inhibitor type-1 gene and to examine the role of this polymorphism in osteoarthritis development. Genomic DNA obtained from 200 persons (140 patients with osteoarthritis and 60 healthy controls) was used in the study. DNA was amplified by polymerase chain reaction using 4G allele- and 5G allele-specific primers. Polymerase chain reaction products were assessed with CCD camera by being exposed to 2% agarose gel electrophoresis. No statistically significant difference between the groups with respect to genotype distribution was found (P > 0.05) in the study. The 4G allele frequency was indicated as 44% and 5G allele was as 56% in patients, whereas this was 45-55% in the control group. This study has established that 4G/5G polymorphism genotypes of plasminogen activator inhibitor type-1 gene do not play a role in the development of osteoarthritis in the Turkish population.
Asunto(s)
Osteoartritis/genética , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Osteoartritis/etnología , TurquíaRESUMEN
This study was conducted in Turkish osteoarthritis patients to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene, and to examine the role of this polymorphism in osteoarthritis development. Genomic DNA obtained from 200 persons (135 patients with osteoarthritis and 65 healthy controls) was used in the study. DNA was multiplied by polymerase chain reaction using I and D allele-specific primers. Polymerase chain reaction products were assessed with CCD camera by being exposed to 2% agarose gel electrophoresis. There was statistically significant difference between the groups with respect to genotype distribution (P < 0.001). The D allele frequency was indicated as 69% and I allele was as 31% in the patients, whereas it was 55-45% in the control group. Consequently, in this study, we may assert that ACE gene I/D polymorphism DD genotype determination is significant criteria for identifying patients who are likely to develop osteoarthritis in east population of Turkey.
