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Rapid detection of hot spot mutations of FGFR3 gene with PCR-high resolution melting assay / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 494-498, 2017.
Artigo em Chinês | WPRIM | ID: wpr-335097
ABSTRACT
<p><b>OBJECTIVE</b>To identify the causative mutations in five individuals affected with dyschondroplasia and develop an efficient procedure for detecting hot spot mutations of the FGFR3 gene.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples with a standard phenol/chloroform method. PCR-Sanger sequencing was used to analyze the causative mutations in the five probands. PCR-high resolution melting (HRM) was developed to detect the identified mutations.</p><p><b>RESULTS</b>A c.1138G>A mutation in exon 8 was found in 4 probands, while a c.1620C>G mutation was found in exon 11 of proband 5 whom had a mild phenotype. All patients were successfully distinguished from healthy controls with the PCR-HRM method. The results of HRM analysis were highly consistent with that of Sanger sequencing.</p><p><b>CONCLUSION</b>The Gly380Arg and Asn540Lys are hot spot mutations of the FGFR3 gene among patients with ACH/HCH. PCR-HRM analysis is more efficient for detecting hot spot mutations of the FGFR3 gene.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Análise Mutacional de DNA / Reação em Cadeia da Polimerase / Temperatura de Transição / Receptor Tipo 3 de Fator de Crescimento de Fibroblastos / Genética / Métodos / Mutação Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Análise Mutacional de DNA / Reação em Cadeia da Polimerase / Temperatura de Transição / Receptor Tipo 3 de Fator de Crescimento de Fibroblastos / Genética / Métodos / Mutação Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo