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Journal Article 2009; 30(Suppl 1): 25-28 PubMed PMID: 20027139 Citation  Keywords:  Adenomatous Polyposis Coli:genetics, Cohort Studies, Exons, Family, Genes, APC, Genetic Predisposition to Disease, Humans, Mutation, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA, Slovakia,.   

OBJECTIVES: Polymorphism in the adenomatous polyposis coli (APC) gene was analyzed in 33 families suspected of familial adenomatous polyposis (FAP) without identified APC gene mutation. Screening of 104 members of mentioned families for polymorphism in the APC gene, was performed using single strand conformation polymorphism (SSCP) and DNA sequencing.

RESULTS: Twelve different types of polymorphism were found in the cohort of the families analyzed. Nine polymorphisms were located within exon 15, one within exon 6, one within exon 11 and one within exon 13. Of the 12 polymorphisms, 11 were silent substitution and only one was responsible for the amino acid change - D1822V, which was identified in 60% of the families analyzed.

CONCLUSION: The most frequently detected polymorphism D1822V is potentially associated with the risk of colorectal cancer. Three detected polymorphisms - Y486Y, T1493T and S1756S - also seem to be associated with colon cancer risk. All these polymorphisms may be used as markers for diagnosis of colorectal cancer. The importance of other detected polymorphisms remains still unclear, but their involvement is being continuously observed....

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Journal Article 2008; 29(5): 653-657 PubMed PMID: 18987576 Citation  Keywords:  Adenomatous Polyposis Coli:epidemiology, Adenomatous Polyposis Coli Protein:genetics, Chromatography, High Pressure Liquid, DNA:biosynthesis, Gene Deletion, Mutation, Polymorphism, Single-Stranded Conformational:genetics, Reverse Transcriptase Polymerase .   

OBJECTIVES: The adenomatous polyposis coli (APC) gene was analyzed for germline mutations in 113 familial adenomatous polyposis suspected families from all over Slovakia. Mutation screening was performed using single strand conformation polymorphism (SSCP) and DNA sequencing.

RESULTS: Mutations in the APC gene were found in 39 (34.5%) Slovak families and 25 different pathogenic mutations throughout the APC gene were identified. Of these, 12 mutations were deletion, one was insertion and 12 were base substitution.

CONCLUSIONS: Molecular diagnostics of Slovak FAP families revealed broad palette of mutations in crucial APC gene. The patients with identified APC gene mutations were assigned to a specific therapeutic FAP program....

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Journal Article 2006; 27(1-2): 241-246 PubMed PMID: 16648817 Citation  Keywords:  5' Untranslated Regions:genetics, Animals, Cattle, DNA:analysis, Exons:genetics, Humans, Polymorphism, Genetic:genetics, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide:genetics, Polymorphism, Single-Stranded Conformational, Pro.   

: Prolactin is a protein hormone playing a role in the maintenance of pregnancy in the pig by action on corpora lutea cells and possibly initiating production of progesterone. The prolactin gene is 10 kb in size and is composed of 5 exons and 4 introns. The present work is a report of the swine PRL gene--comparative DNA sequence analysis and the SNP revealed in the promoter region. Based on the bovine prolactin gene, three primer pairs were designed using the Primer3 on-line software. The overlapping fragments covered about 400 nucleotides of the promoter and 78 nucleotides of exon 1. The fragments were amplified; two of them were sequenced and deposited in the GenBank database (AY341908 and AY905690). All fragments were analyzed using multitemperature SSCP (MSSCP) technique. Only one fragment appeared to show a different MSSCP pattern. The samples of differing MSSCP conformers were sequenced and the C499T transition was identified in the 5'UTR region of the gene. The HphI restriction enzyme appeared to recognize the novel SNP. The alignment for homology analysis was performed with porcine, bovine (X01452) and human (NM_000948) DNA sequences available in GenBank database, using BLAST software. The comparative homology analysis results varied in dependence on the species and functional region of the gene....

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