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The combination of heteroduplex analysis and protein truncation test for exact detection of the APC gene mutations.
Neoplasma. 1998; 45(6):345-8.N

Abstract

Familial adenomatous polyposis (FAP) is usually associated with mutation in the adenomatous polyposis coli (APC) gene. To examine the occurrence of these mutations in the number of FAP suspected families from the whole Slovakia effectively, we have applied heteroduplex analysis (HDA) and protein truncation test (PTT) for the analyses of 2-5 base pair deletions and point mutations of the APC gene. In the analyzed exon 15 of the APC gene determined by the primers 15Efor-15Grev for HDA and 15ET7-15J3 for PTT more than 70% of mutations should be deletions [3, 12], which are detectable by HDA. In our collection of 5 FAP families mutations in the APC gene were found in families 10, 27 and 41 using HDA. By PTT test the formation of truncated APC protein in FAP families 2, 10, 16 and 27 were revealed. The necessity of combination of at least HDA and PTT techniques for exact detection of APC mutations in analyzed APC region is discussed.

Authors+Show Affiliations

Cancer Research Institute, Slovak Academy of Sciences, Bratislava.No 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

10210106

Citation

Tomka, M, et al. "The Combination of Heteroduplex Analysis and Protein Truncation Test for Exact Detection of the APC Gene Mutations." Neoplasma, vol. 45, no. 6, 1998, pp. 345-8.
Tomka M, Kirchhoff T, Kulcsár L, et al. The combination of heteroduplex analysis and protein truncation test for exact detection of the APC gene mutations. Neoplasma. 1998;45(6):345-8.
Tomka, M., Kirchhoff, T., Kulcsár, L., Stevurková, V., & Zajac, V. (1998). The combination of heteroduplex analysis and protein truncation test for exact detection of the APC gene mutations. Neoplasma, 45(6), 345-8.
Tomka M, et al. The Combination of Heteroduplex Analysis and Protein Truncation Test for Exact Detection of the APC Gene Mutations. Neoplasma. 1998;45(6):345-8. PubMed PMID: 10210106.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The combination of heteroduplex analysis and protein truncation test for exact detection of the APC gene mutations. AU - Tomka,M, AU - Kirchhoff,T, AU - Kulcsár,L, AU - Stevurková,V, AU - Zajac,V, PY - 1999/4/21/pubmed PY - 1999/4/21/medline PY - 1999/4/21/entrez SP - 345 EP - 8 JF - Neoplasma JO - Neoplasma VL - 45 IS - 6 N2 - Familial adenomatous polyposis (FAP) is usually associated with mutation in the adenomatous polyposis coli (APC) gene. To examine the occurrence of these mutations in the number of FAP suspected families from the whole Slovakia effectively, we have applied heteroduplex analysis (HDA) and protein truncation test (PTT) for the analyses of 2-5 base pair deletions and point mutations of the APC gene. In the analyzed exon 15 of the APC gene determined by the primers 15Efor-15Grev for HDA and 15ET7-15J3 for PTT more than 70% of mutations should be deletions [3, 12], which are detectable by HDA. In our collection of 5 FAP families mutations in the APC gene were found in families 10, 27 and 41 using HDA. By PTT test the formation of truncated APC protein in FAP families 2, 10, 16 and 27 were revealed. The necessity of combination of at least HDA and PTT techniques for exact detection of APC mutations in analyzed APC region is discussed. SN - 0028-2685 UR - https://www.unboundmedicine.com/medline/citation/10210106/The_combination_of_heteroduplex_analysis_and_protein_truncation_test_for_exact_detection_of_the_APC_gene_mutations_ DB - PRIME DP - Unbound Medicine ER -