Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype
Joint Authors
Zhang, X.
Ma, G.
Chen, S.
Zhang, Y.
Zhou, J.
Zhu, M.
Li, J.
Zhou, X.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-03-15
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Background and Aim.
Germline mutations of the adenomatous polyposis coli (APC) gene cause familial adenomatous polyposis (FAP), an autosomal dominant inherited disease mainly characterized by colorectal adenomatous polyposis.
Genetic studies of FAP have shown that somatic APC mutations are dependent on the position of the germline APC mutation.
However, the molecular mechanism underlying these genotype-phenotype associations for APC in Chinese remain largely unknown.
Patients and Methods.
In this study, we investigated the APC gene mutation in a Chinese FAP family by systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (dHPLC), and DNA sequencing.
Promoter methylation was detected by methylation-specific PCR.
Results.
The identical germline mutation c.1999 C>T (Q667X) of APC was identified in 5 affected members, among which 2 members carried somatic mutations of APC, one with promoter hypermethylation and the other with loss of wild-type allele in their adenomas.
The somatic mutations were shown connected with the disease severity, demonstrating a unique genotype-phenotype association in this FAP pedigree.
Conclusion.
The study revealed the existence of novel pathogenic mutations in Chinese patients with FAP.
Somatic mutations are of particular interest because of the unusual phenotypic features shown by patients.
American Psychological Association (APA)
Chen, S.& Zhou, J.& Zhang, X.& Zhou, X.& Zhu, M.& Zhang, Y.…[et al.]. 2011. Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype. ISRN Gastroenterology،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-507279
Modern Language Association (MLA)
Chen, S.…[et al.]. Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype. ISRN Gastroenterology No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-507279
American Medical Association (AMA)
Chen, S.& Zhou, J.& Zhang, X.& Zhou, X.& Zhu, M.& Zhang, Y.…[et al.]. Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype. ISRN Gastroenterology. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-507279
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-507279