Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 272-275, 2014.
Artículo
en Chino
| WPRIM
| ID: wpr-254468
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes of 20 members from two affected families. All of the 18 exons of the FGFR2 gene were amplified with polymerase chain reaction and sequenced after purification.</p><p><b>RESULTS</b>A missense mutation c.868T>C (p.W290R) in exon 8 of the FGFR2 gene was found solely in 2 affected members from family 1. Another missense mutation c.833G>T (p.C278F) in exon 8 was found solely in 5 affected members of family 2.</p><p><b>CONCLUSION</b>The missense mutations of the FGFR2 gene are responsible for the Crouzon syndrome in the two families. The c.868T>C missense mutation is reported for the first time in Chinese population.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Estudios de Casos y Controles
/
China
/
Mutación Missense
/
Disostosis Craneofacial
/
Pueblo Asiatico
/
Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos
/
Genética
Tipo de estudio:
Estudio observacional
Límite:
Adolescente
/
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2014
Tipo del documento:
Artículo
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