Detection of large intragenic mismatch repair genes deletions in Chinese hereditary nonpolyposis colorectal cancer families with multiplex ligation-dependent probe amplification technique / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 837-839, 2006.
Artículo
en Chino
| WPRIM
| ID: wpr-313673
ABSTRACT
<p><b>OBJECTIVE</b>To gain an insight into the large intragenic hMSH2 and hMLH1 deletions in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families.</p><p><b>METHOD</b>The large intragenic hMSH2 and hMLH1 deletions in 17 probands of HNPCC families were detected with multiplex ligation-dependent probe Three large intragenic hMSH2 deletions of examplification (MLPA) and GeneMapper techniques.</p><p><b>RESULTS</b>on 8, exon 1-6, and exon 1-7 were found in three families respectively, and no hMLH1 deletion was found. The deletions accounted for 19% of the total hMSH2 and hMLHI germline pathogenic mutations.</p><p><b>CONCLUSIONS</b>The incidence of large intragenic mismatch repair (MMR) genes deletions is relatively higher in Chinese families, and hMSH2 deletions may be more common. It is necessary to detect the large intragenic MMR genes deletions in the molecular detection of HNPCC.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Proteínas Nucleares
/
Neoplasias Colorrectales Hereditarias sin Poliposis
/
Eliminación de Gen
/
Técnicas de Amplificación de Ácido Nucleico
/
Proteínas Adaptadoras Transductoras de Señales
/
Proteína 2 Homóloga a MutS
/
Homólogo 1 de la Proteína MutL
/
Genética
/
Métodos
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Acta Academiae Medicinae Sinicae
Año:
2006
Tipo del documento:
Artículo
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