Beta-thalassemia mutations in western India.
Indian J Pediatr
;
2008 Jun; 75(6): 567-70
Artículo
en Inglés
| IMSEAR
| ID: sea-84050
ABSTRACT
OBJECTIVE:
To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities.METHODS:
The mutation screening was carried out using ARMS-PCR in children with beta thalassemia.RESULTS:
Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat.CONCLUSION:
Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Diagnóstico Prenatal
/
Humanos
/
Análisis Mutacional de ADN
/
Etnicidad
/
Pruebas Genéticas
/
Reacción en Cadena de la Polimerasa
/
Prevalencia
/
Mutación del Sistema de Lectura
/
Eliminación de Secuencia
/
Mutación Puntual
Tipo de estudio:
Estudio diagnóstico
/
Estudio de prevalencia
/
Estudio pronóstico
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2008
Tipo del documento:
Artículo
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