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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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November 2001 Volume 8 Issue 5

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Medicine International

An International Open Access Journal Devoted to General Medicine.

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November 2001 Volume 8 Issue 5

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Article

Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis

  • Authors:
    • Pierluigi Strippoli
    • Silvia Sarchielli
    • Renato Santucci
    • Gian Paolo Bagnara
    • Giovanni Brandi
    • Guido Biasco

  • View Affiliations / Copyright

    Affiliations: Institute of Histology and Embryology, University of Bologna, Bologna, Italy
  • Pages: 567-572
    |
    Published online on: November 1, 2001
       https://doi.org/10.3892/ijmm.8.5.567
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Abstract

Over 200 adenomatous polyposis coli (APC) gene mutations have been described in familial adenomatous polyposis (FAP) patients. Recent single-strand conformation polymorphism (SSCP) screening methods have introduced minigel runs, simple ethidium bromide staining and external temperature control without any loss of sensitivity (cold-SSCP). In order to test the effectiveness in APC mutation detection, cold-SSCP was employed following polymerase chain reaction (PCR) amplification in three patients with FAP. Different running parameter combinations were compared. The three mutations already known were all diagnosed by cold-SSCP. The gel concentration was found to be essential in detecting the single-base substitution in fragments of different lengths. The observation of deletions was not affected by gel concentrations and heteroduplex bands were always produced. The temperature or glycerol addition did not significantly affect sensitivity. This modified cold-SSCP method provides a simple and effective way for detecting several known Apc gene mutations without any loss of sensitivity and could be useful for large-scale molecular diagnosis of FAP.

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Copy and paste a formatted citation
Spandidos Publications style
Strippoli P, Sarchielli S, Santucci R, Bagnara GP, Brandi G and Biasco G: Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis. Int J Mol Med 8: 567-572, 2001.
APA
Strippoli, P., Sarchielli, S., Santucci, R., Bagnara, G.P., Brandi, G., & Biasco, G. (2001). Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis. International Journal of Molecular Medicine, 8, 567-572. https://doi.org/10.3892/ijmm.8.5.567
MLA
Strippoli, P., Sarchielli, S., Santucci, R., Bagnara, G. P., Brandi, G., Biasco, G."Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis". International Journal of Molecular Medicine 8.5 (2001): 567-572.
Chicago
Strippoli, P., Sarchielli, S., Santucci, R., Bagnara, G. P., Brandi, G., Biasco, G."Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis". International Journal of Molecular Medicine 8, no. 5 (2001): 567-572. https://doi.org/10.3892/ijmm.8.5.567
Copy and paste a formatted citation
x
Spandidos Publications style
Strippoli P, Sarchielli S, Santucci R, Bagnara GP, Brandi G and Biasco G: Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis. Int J Mol Med 8: 567-572, 2001.
APA
Strippoli, P., Sarchielli, S., Santucci, R., Bagnara, G.P., Brandi, G., & Biasco, G. (2001). Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis. International Journal of Molecular Medicine, 8, 567-572. https://doi.org/10.3892/ijmm.8.5.567
MLA
Strippoli, P., Sarchielli, S., Santucci, R., Bagnara, G. P., Brandi, G., Biasco, G."Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis". International Journal of Molecular Medicine 8.5 (2001): 567-572.
Chicago
Strippoli, P., Sarchielli, S., Santucci, R., Bagnara, G. P., Brandi, G., Biasco, G."Cold single-strand conformation polymorphism analysis: Optimization for detection of APC gene mutations in patients with familial adenomatous polyposis". International Journal of Molecular Medicine 8, no. 5 (2001): 567-572. https://doi.org/10.3892/ijmm.8.5.567
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