RESUMEN

The most common nondeletional alpha-thalassemia allele, namely alpha(T-Saudi) (AATAAA-->AATAAG), in the Arabian peninsula and neighboring countries is responsible for a number of cases of Hb H disease. It is expected to alter significantly the clinical manifestations of beta-thalassemia and sickle cell disease, also quite prevalent in these regions. Recognition of the alpha(T-Saudi) allele has so far relied on technically-demanding procedures. Here we report a simple, rapid, and robust polymerase chain reaction-based detection procedure for this allele. This involves priming of the polymerase chain reaction with a deliberately introduced mismatch in one of the primers so that the mutant allele, after amplification, would introduce a StuI restriction enzyme site, the presence of which can be recognized by digesting the polymerase chain reaction product with this enzyme.

Asunto(s)

Globinas/genética , Poli A/genética , Talasemia alfa/diagnóstico , Talasemia alfa/genética , Adolescente , Adulto , Alelos , Disparidad de Par Base/genética , Niño , Preescolar , Francia/epidemiología , Pruebas Genéticas , Genotipo , Globinas/química , Homocigoto , Humanos , Persona de Mediana Edad , Medio Oriente/etnología , Mutación Puntual , Poli A/metabolismo , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo de Longitud del Fragmento de Restricción , Temperatura

Asunto(s)

Mutación , Talasemia beta/genética , Alelos , Bahrein , Mapeo Cromosómico , Hemoglobinas/genética , Humanos , Medio Oriente , Mutación Puntual , Eliminación de Secuencia