Long QT syndrome gene diagnosis by haplotype analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 272-273, 2004.
Artículo
en Chino
| WPRIM
| ID: wpr-328900
ABSTRACT
<p><b>OBJECTIVE</b>Three long QT syndrome(LQTS) pedigrees were brought together for genetic diagnosis by using short tandem repeat(STR) markers.</p><p><b>METHODS</b>Genomic DNA was extracted from blood samples. STR markers (D7S1824, D7S2439, D7S483, D3S1298, D3S1767, D3S3521) in or spanning the HERG and SCN5A gene were amplified; the haplotype analysis for LQTS was performed.</p><p><b>RESULTS</b>Clinical diagnosis showed that 15 are LQTS patients (3 died) and 11 are probable patients. Linkage analysis showed that LQTS patients are linked with the SCN5A gene in family 1, HERG is linked with the disease in family 2 and 3. Fourteen gene carriers were identified, 2 patients and 7 probable patients were excluded.</p><p><b>CONCLUSION</b>Linkage analysis using STR markers can serve as useful tool for presymptomatic diagnosis.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Haplotipos
/
Síndrome de QT Prolongado
/
Canales de Potasio
/
Canales de Sodio
/
Secuencias Repetidas en Tándem
/
Canales de Potasio con Entrada de Voltaje
/
Canales de Potasio Éter-A-Go-Go
/
Canal de Potasio ERG1
/
Genética
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Artículo
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