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FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 218-220, 2008.
Artigo em Chinês | WPRIM | ID: wpr-229786
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutation of fibroblast growth factor receptor (FGFR2)in a Crouzon syndrome family and a sporadic patient.</p><p><b>METHODS</b>The genomic DNA from 10 members in the Crouzon syndrome family, as well as a sporadic patient, was extracted. Then exons 8 and 10 of FGFR2 gene and their flanking sequences were amplified by polymerase chain reaction. Some of the family members were studied by only amplifying exon 8. Finally, the PCR products were purified and sequenced.</p><p><b>RESULTS</b>The G to T transversion mutation (heterozygote) at nucleotide 833 in exon 8 of FGFR2 (C278F), was found both in the patients of the family and the sporadic patient.</p><p><b>CONCLUSION</b>FGFR2 gene mutation is responsible for the pathogenesis of Crouzon syndrome in these patients.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Reação em Cadeia da Polimerase / Disostose Craniofacial / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos / Genética / Heterozigoto / Mutação Limite: Adulto / Criança / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2008 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Reação em Cadeia da Polimerase / Disostose Craniofacial / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos / Genética / Heterozigoto / Mutação Limite: Adulto / Criança / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2008 Tipo de documento: Artigo