The analysis for mRNA mutation of MLH1, MSH2 genes and the gene diagnosis for hereditary nonpolyposis colorectal cancer / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 32-36, 2006.
Article
em Zh
| WPRIM
| ID: wpr-263858
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify hereditary nonpolyposis colorectal cancer (HNPCC) families based on the germline mutations of MLH1 and MSH2 mRNA.</p><p><b>METHODS</b>RNA was extracted from the peripheral blood of the 14 members from 12 different families fulfilling Amsterdam Criteria II. The germline mutations of MLH1 and MSH2 mRNA were detected by cDNA sequencing analysis following reverse transcription-PCR(RT-PCR) with special primers, heat-resistance reverse transcriptase, and expand long template PCR. DNA was extracted from the peripheral blood of the 14 members, the corresponding exons, in which mutations were found using the above method, were amplified with Taq enzyme, sequencing analysis was followed.</p><p><b>RESULTS</b>Six germline mutations were detected and identified from the 6 different families based on mRNA, 4 of them to be in MLH1, the other 2 in MSH2. The MLH1 mutations distribute in the exon 8, 12, 16, and 19. The MSH2 mutations distribute in exons 1 and 2. The 6 mutations were identified from the corresponding exons respectively in genomic DNA sequencing analysis. The mutation types involve in 4 missense, 1 silent, and 1 non-coding area mutations. Five out of the 6 mutations have not been reported previously. Five out of the 6 mutations were pathological, involving in 5 different families. The five families were identified to HNPCC families.</p><p><b>CONCLUSION</b>HNPCC family can be identified with RNA-based sequencing of MLH1 and MSH2 from peripheral blood, which has the advantages of both cost, time saving and high sensitivity.</p>
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Base de dados:
WPRIM
Assunto principal:
RNA Mensageiro
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Proteínas Nucleares
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Proteínas de Transporte
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Neoplasias Colorretais Hereditárias sem Polipose
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Biomarcadores Tumorais
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Mutação em Linhagem Germinativa
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Proteínas Adaptadoras de Transdução de Sinal
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Diagnóstico
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Proteína 2 Homóloga a MutS
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Proteína 1 Homóloga a MutL
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2006
Tipo de documento:
Article