Case-control study and transmission/disequilibrium test of childhood absence epilepsy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 183-186, 2002.
Artículo
en Chino
| WPRIM
| ID: wpr-245338
ABSTRACT
<p><b>OBJECTIVE</b>To investigate whether or not the gamma-aminobutyric acid (GABA) receptor subtype A genes GABRA5 and GABRB3 are associated with childhood absence epilepsy (CAE).</p><p><b>METHODS</b>Two microsatellite DNA, GABRA5 and GABRB3, adjoining to chromosome 15q11.2-q12 were used as genetic markers. Both case-control study and transmission/disequilibrium test (TDT) as well as fluorescence-based semi-automated genotyping technique were used in 90 trios with CAE and 100 controls to conduct association analysis.</p><p><b>RESULTS</b>The allele frequencies of the 2 microsatellite DNA in Chinese normal population are in good agreement with Hardy-Weinberg equilibrium. The polymorphism information content of microsatellite DNA GABRA5 and GABRB3, are 0.80 and 0.66 respectively. The allele 2 frequency of microsatellite DNA GABRA5 and the allele 5 frequency of microsatellite DNA GABRB3 are significantly higher in CAE patients than those in normal controls(P<0.001).</p><p><b>CONCLUSION</b>Both microsatellite DNA GABRA5 and GABRB3 are good genetic markers. The gamma-aminobutyric acid receptor subtype A genes GABRA5 and GABRB3 may be directly involved either in the etiology of CAE or in linkage disequilibrium with disease-predisposing sites.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
ADN
/
Estudios de Casos y Controles
/
Desequilibrio de Ligamiento
/
Epilepsia Tipo Ausencia
/
Receptores de GABA-B
/
Receptores de GABA-A
/
Repeticiones de Microsatélite
/
Alelos
/
Frecuencia de los Genes
/
Genética
Tipo de estudio:
Estudio observacional
/
Factores de riesgo
Límite:
Adolescente
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2002
Tipo del documento:
Artículo
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