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Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis / 中华医学遗传学杂志
Article em Zh | WPRIM | ID: wpr-288038
Biblioteca responsável: WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.</p><p><b>RESULTS</b>Germline mutations have been identified in 5 FAP pedigrees, which included c.3184_3187delCAAA, c.5432C>T, c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees). Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.</p><p><b>CONCLUSION</b>C.3925_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations, which are mostly deletional mutations, especially the 5 bp base deletion at codon 1309.</p>
Assuntos
Texto completo: 1 Base de dados: WPRIM Assunto principal: Linhagem / Dados de Sequência Molecular / Sequência de Bases / China / Deleção de Sequência / Polipose Adenomatosa do Colo / Proteína da Polipose Adenomatosa do Colo / Povo Asiático / Genética Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2015 Tipo de documento: Article
Texto completo: 1 Base de dados: WPRIM Assunto principal: Linhagem / Dados de Sequência Molecular / Sequência de Bases / China / Deleção de Sequência / Polipose Adenomatosa do Colo / Proteína da Polipose Adenomatosa do Colo / Povo Asiático / Genética Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2015 Tipo de documento: Article