Two gene mutations in fibrillin 1 of Marfan syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 440-442, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-247298
ABSTRACT
<p><b>OBJECTIVE</b>To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome.</p><p><b>METHODS</b>Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the corresponding normal elution profile were sequenced to identify the positions and types of mutations. Restriction fragment length polymorphism (RFLP) was employed to further prove the mutations when needed.</p><p><b>RESULTS</b>Two gene mutations of the FBN1 were found in the patients with Marfan syndrome. They were a novel substitutional mutation (Intron29 +4A > T) of FBN1 and a recurrent nonsense mutation (8080C >T) of FBN1.</p><p><b>CONCLUSION</b>Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo de Fragmento de Restrição
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Reação em Cadeia da Polimerase
/
Proteínas Serina-Treonina Quinases
/
Receptores de Fatores de Crescimento Transformadores beta
/
Fibrilinas
/
Fibrilina-1
/
Genética
/
Síndrome de Marfan
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Artigo
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