Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 221-224, 2008.
Artículo
en Chino
| WPRIM
| ID: wpr-229785
ABSTRACT
<p><b>OBJECTIVE</b>To identify the MLH1 and MSH2 gene mutation in two hereditary nonpolyposis colorectal cancer (HNPCC) families.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen for MLH1 and MSH2 gene mutation, and PCR-restriction fragment length polymorphism and DNA sequencing were performed to confirm the mutation.</p><p><b>RESULTS</b>By DNA sequencing, a novel mutation of c.243_244insA located at the exon 3 of MLH1 gene was detected in family A, while c.1215_1218dupCCGA mutation located at the exon 7 of MSH2 gene was detected in family B. These two mutations can cause the formation of premature proteins.</p><p><b>CONCLUSION</b>The novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Proteínas Nucleares
/
Neoplasias Colorrectales Hereditarias sin Poliposis
/
Reacción en Cadena de la Polimerasa
/
Pueblo Asiatico
/
Proteínas Adaptadoras Transductoras de Señales
/
Proteína 2 Homóloga a MutS
/
Homólogo 1 de la Proteína MutL
/
Genética
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2008
Tipo del documento:
Artículo
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