Mutation analysis of STK11 gene in a Chinese family with Peutz-Jeghers syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 294-297, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-254463
ABSTRACT
<p><b>OBJECTIVE</b>To investigate STK11 gene mutation in a pedigree with Peutz-Jeghers syndrome (PJS).</p><p><b>METHODS</b>A pedigree of PJS was investigated. DNA was extracted from peripheral blood samples from affected and unaffected members of the pedigree and 100 unrelated healthy controls. PCR was performed to amplify all of the 9 coding exons of STK11 gene. PCR products were directly sequenced to detect mutation.</p><p><b>RESULTS</b>A missense mutation p.F354L (c.1062C>G) in exon 8 of the STK11 gene has been identified in all patients with PJS, but was not found in normal individuals from the pedigree and 100 unrelated controls.</p><p><b>CONCLUSION</b>A missense mutation p.F354L of STK11 gene probably underlies the disease in this pedigree.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Síndrome de Peutz-Jeghers
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Éxons
/
Proteínas Serina-Treonina Quinases
/
Povo Asiático
/
Diagnóstico
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS