Asunto(s)
Enfermedad Coronaria/genética , Polimorfismo Genético , Receptores de LDL/genética , Negro o Afroamericano/genética , Aterosclerosis/etnología , Aterosclerosis/genética , Enfermedad Coronaria/etnología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Riesgo , Población Blanca/genéticaAsunto(s)
Talasemia/genética , Genes Recesivos , Globinas/metabolismo , Homocigoto , Humanos , Líbano , Talasemia/metabolismoRESUMEN
The gamma G/gamma A ratio was determined on 50 cord blood samples from normal newborns and in 28 beta-thalassemia homozygotes among the Lebanese population, using electrophoresis on acrylamide-bisacrylamide gels containing Triton X-100, urea, and 2-mercapto-ethanol. 2-Mercapto-ethanol was found to be the most effective reducer, giving good resolution and a clean background. As the concentration of Triton X-100 was critical in this study, a concentration of 500 microliters of Triton X-100/25 ml of reaction mixture was found to be optimal. In our 50 cord blood samples, the mean total Hb was 20 g/dl, with a range of 12-26. The mean fetal Hb (HbF) level was 64%, and the range 50-90%. The mean value for gamma G/gamma G + gamma A was 0.75. All beta-homozygotes had an elevated HbF, ranging from 7.7-99.3%, and their mean gamma G/gamma G + gamma A was 0.64. Only two out of 28 had gamma G/gamma G + gamma A ratio of 0.5; in the rest it was 0.60 or greater. This may be due to the greater resistance of erythrocytes with higher HbF and higher gamma G/gamma A destruction.