Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 261-264, 2005.
Artigo
em Inglês
| WPRIM
| ID: wpr-321111
ABSTRACT
<p><b>OBJECTIVE</b>This study was aimed at establishing an efficient mutation analysis technique system to screen the germline mutations in the adenomatous polyposis coli (APC) gene that predisposes the disease susceptibility in familial adenomatous polyposis (FAP) and to investigate the relationship between genotype and phenotype of APC gene.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood lymphocytes of 22 patients with clinically diagnosed FAP and was forwarded to screening for germline mutations by using denaturing high-performance liquid chromatography(DHPLC), protein truncation test (PTT) and DNA sequencing in APC gene. Analysis of genotype-phenotype was also performed on the clinical data of the FAP patients.</p><p><b>RESULTS</b>Thirteen APC germline mutations were identified in 22 FAP patients. All of the mutations were nonsense or framshift mutations. Analysis of genotype-phenotype demonstrated that the FAP patients with mutations in the 5'or 3'extreme parts of the APC gene showed mild clinical symptoms. However, the FAP patients with mutations in the middle of the APC gene displayed typical or severe clinical symptoms.</p><p><b>CONCLUSION</b>The technique system established in this study can efficiently and sensitively detect the mutations in APC gene. It is useful in the molecular diagnosis of pre-symptomatic FAP cases in FAP family. The clinical features of FAP patients may be related to their genotypes of APC gene.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Análise Mutacional de DNA
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Reação em Cadeia da Polimerase
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Mutação da Fase de Leitura
/
Cromatografia Líquida de Alta Pressão
/
Mutação em Linhagem Germinativa
/
Polipose Adenomatosa do Colo
/
Proteína da Polipose Adenomatosa do Colo
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Genética
/
Genótipo
Limite:
Humanos
Idioma:
Inglês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo
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