Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 373-375, 2003.
Artículo
en Chino
| WPRIM
| ID: wpr-329456
ABSTRACT
<p><b>OBJECTIVE</b>To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.</p><p><b>METHODS</b>Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease MaeIII.</p><p><b>RESULTS</b>A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.</p><p><b>CONCLUSION</b>Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Linaje
/
Acondroplasia
/
Proteínas Tirosina Quinasas
/
ADN
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Química
/
Salud de la Familia
/
Receptores de Factores de Crecimiento de Fibroblastos
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2003
Tipo del documento:
Artículo
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