Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 2458-2464, 1999.
Artículo
en Coreano
| WPRIM
| ID: wpr-49333
ABSTRACT
Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However, the exact prevalence of fragile X syndrome in Korean patients with mental retardation is unknown. We have performed cytogenetic and molecular analysis for fragile X syndrome in 212 Korean patients with mental retardation. Among them, six patients (2.8%) was identified as carrying fragile X syndrome by both cytogenetic and molecular analysis. The results by cytogenetic analysis was identical to those by molecular analysis. Cytogenetic analysis of 6 carriers (mothers of patients with proven fragile X syndrome) showed a fragile X chromosome in one patients (16.7%) while molecular analysis revealed premutation in all patients. PCR method using Klentaq1 Pfu polymerase showed the same results as those by PCR method using Exo(-) Pfu polymerase, but the former method is recommended because of its simplicity in technical aspect. These data suggest that the prevalence of fragile X syndrome in Korean patients with mental retardation is 2.8%, not significantly different from those in Caucasians.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosoma X
/
Reacción en Cadena de la Polimerasa
/
Incidencia
/
Prevalencia
/
Análisis Citogenético
/
Citogenética
/
Diagnóstico
/
Síndrome del Cromosoma X Frágil
/
Discapacidad Intelectual
/
Biología Molecular
Tipo de estudio:
Estudio diagnóstico
/
Estudio de incidencia
/
Estudio de prevalencia
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
1999
Tipo del documento:
Artículo
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