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Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun; 22(3):261-4.ZY

Abstract

OBJECTIVE

This study was aimed at establishing an efficient mutation analysis technique system to screen the germline mutations in the adenomatous polyposis coli (APC) gene that predisposes the disease susceptibility in familial adenomatous polyposis (FAP) and to investigate the relationship between genotype and phenotype of APC gene.

METHODS

Genomic DNA was extracted from the peripheral blood lymphocytes of 22 patients with clinically diagnosed FAP and was forwarded to screening for germline mutations by using denaturing high-performance liquid chromatography(DHPLC), protein truncation test (PTT) and DNA sequencing in APC gene. Analysis of genotype-phenotype was also performed on the clinical data of the FAP patients.

RESULTS

Thirteen APC germline mutations were identified in 22 FAP patients. All of the mutations were nonsense or framshift mutations. Analysis of genotype-phenotype demonstrated that the FAP patients with mutations in the 5'or 3'extreme parts of the APC gene showed mild clinical symptoms. However, the FAP patients with mutations in the middle of the APC gene displayed typical or severe clinical symptoms.

CONCLUSION

The technique system established in this study can efficiently and sensitively detect the mutations in APC gene. It is useful in the molecular diagnosis of pre-symptomatic FAP cases in FAP family. The clinical features of FAP patients may be related to their genotypes of APC gene.

Authors+Show Affiliations

Department of Medical Genetics, Medical School, Nanjing University, Nanjing, Jiangsu, 210093, PR China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15952110

Citation

Liu, Xiao-rong, et al. "Analysis of Germline Mutations in the APC Gene in Familial Adenomatous Polyposis Patients." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 22, no. 3, 2005, pp. 261-4.
Liu XR, Shan XN, Friedl W, et al. Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22(3):261-4.
Liu, X. R., Shan, X. N., Friedl, W., Uhlhaas, S., Propping, P., & Wang, Y. P. (2005). Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 22(3), 261-4.
Liu XR, et al. Analysis of Germline Mutations in the APC Gene in Familial Adenomatous Polyposis Patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22(3):261-4. PubMed PMID: 15952110.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients. AU - Liu,Xiao-rong, AU - Shan,Xiang-nian, AU - Friedl,W, AU - Uhlhaas,S, AU - Propping,P, AU - Wang,Ya-ping, PY - 2005/6/14/pubmed PY - 2009/3/20/medline PY - 2005/6/14/entrez SP - 261 EP - 4 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 22 IS - 3 N2 - OBJECTIVE: This study was aimed at establishing an efficient mutation analysis technique system to screen the germline mutations in the adenomatous polyposis coli (APC) gene that predisposes the disease susceptibility in familial adenomatous polyposis (FAP) and to investigate the relationship between genotype and phenotype of APC gene. METHODS: Genomic DNA was extracted from the peripheral blood lymphocytes of 22 patients with clinically diagnosed FAP and was forwarded to screening for germline mutations by using denaturing high-performance liquid chromatography(DHPLC), protein truncation test (PTT) and DNA sequencing in APC gene. Analysis of genotype-phenotype was also performed on the clinical data of the FAP patients. RESULTS: Thirteen APC germline mutations were identified in 22 FAP patients. All of the mutations were nonsense or framshift mutations. Analysis of genotype-phenotype demonstrated that the FAP patients with mutations in the 5'or 3'extreme parts of the APC gene showed mild clinical symptoms. However, the FAP patients with mutations in the middle of the APC gene displayed typical or severe clinical symptoms. CONCLUSION: The technique system established in this study can efficiently and sensitively detect the mutations in APC gene. It is useful in the molecular diagnosis of pre-symptomatic FAP cases in FAP family. The clinical features of FAP patients may be related to their genotypes of APC gene. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/15952110/Analysis_of_germline_mutations_in_the_APC_gene_in_familial_adenomatous_polyposis_patients_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -