Asunto(s)
Proteínas de la Membrana/genética , Mutación/genética , Proteínas de Neoplasias/genética , Vesícula/diagnóstico , Vesícula/etnología , Vesícula/genética , Epidermólisis Ampollosa/diagnóstico , Epidermólisis Ampollosa/etnología , Epidermólisis Ampollosa/genética , Exones/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , Enfermedades Periodontales/diagnóstico , Enfermedades Periodontales/etnología , Enfermedades Periodontales/genética , Trastornos por Fotosensibilidad/diagnóstico , Trastornos por Fotosensibilidad/etnología , Trastornos por Fotosensibilidad/genética , EspañaRESUMEN
The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10(5) Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y-chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences.
Asunto(s)
Síndrome de Turner/genética , Cromosoma Y , Adolescente , Secuencia de Bases , Niño , Preescolar , Cartilla de ADN , Femenino , Humanos , Lactante , Recién Nacido , Cariotipificación , Datos de Secuencia Molecular , Reacción en Cadena de la PolimerasaRESUMEN
BACKGROUND: Cystic fibrosis (CF) is the most common autosomic-recessive inherited disorder. More than 300 different mutations in the CF gene (CFTR) have been described, being delta F508 and G542X the most common in the Spanish population. The frequencies of these mutations vary between the different European populations. METHODS: We have studied the delta F508 and G542X mutations in 20 CF-patients from Asturias. These mutations were analysed through the polymerase chain reaction (PCR). RESULTS: The frequency of the delta F508 mutation in Asturias was 77.5%, higher than those found in most of the other Spanish populations. The frequency found in Asturias is close to the frequency described for the Basque Country population. Patients homozygous for the delta F508 mutation showed clinical symptoms similar to those described in studies on other populations. CONCLUSIONS: The high frequency of two mutations in the CFTR gene in Asturias makes possible the direct diagnostic in most families. The delta F508 mutation is associated to severe clinical manifestations, like early pancreatic insufficiency and Pseudomonas infection.