Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

Hülya Sümer ÇELEBİ; Hilal ÖZDAĞ

doi:https://doi.org/10.3906/sag-1304-64

Makale detayları

Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

Yazarlar:

Hülya Sümer ÇELEBİ | Hilal ÖZDAĞ

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 5, pp.713-719

Belge Tipi:

Makale

Yayın Tarihi:

4/2014

Belge Dili:

İngilizce

Document ID (Org No.):

2000753039

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

DOI:

https://doi.org/10.3906/sag-1304-64

Anahtar kelimeler:

Özet:

 

Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivity of HRM and DHPLC for the detection of MEFV, F5, and F2 gene point mutations were evaluated.  Materials and methods: We studied 15 patients with MEFV mutations (E148Q, M680I, M694V, or V726A), 7 patients with the F51691G>A mutation, and 12 patients with the F220210G>A mutation. All mutations were screened by HRM and DHPLC.   Results: All mutations were successfully detected by HRM. However, only 4 (MEFV E148Q and M680I, F51691G>A, and F220210G>A) of 6 mutations were successfully detected with DHPLC.  Conclusion: Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.

 

Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivity of HRM and DHPLC for the detection of MEFV, F5, and F2 gene point mutations were evaluated.  Materials and methods: We studied 15 patients with MEFV mutations (E148Q, M680I, M694V, or V726A), 7 patients with the F51691G>A mutation, and 12 patients with the F220210G>A mutation. All mutations were screened by HRM and DHPLC.   Results: All mutations were successfully detected by HRM. However, only 4 (MEFV E148Q and M680I, F51691G>A, and F220210G>A) of 6 mutations were successfully detected with DHPLC.  Conclusion: Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.

Makale detayları

Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

Yazarlar:

Hülya Sümer ÇELEBİ | Hilal ÖZDAĞ

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 5, pp.713-719

Belge Tipi:

Makale

Yayın Tarihi:

4/2014

Belge Dili:

İngilizce

Document ID (Org No.):

2000753039

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

DOI:

https://doi.org/10.3906/sag-1304-64

Point mutations

high-resolution melting analysis

denaturing high-performance liquid chromatography

Sayı

Makale detayları

Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

Yazarlar: Hülya Sümer ÇELEBİ | Hilal ÖZDAĞ

Yayıncı: TUBITAK

Ana Başlıklar: Sağlık teşvikleri

Dergi: Turkish Journal of Medical Sciences 2014 Vol.44 Issue 5, pp.713-719

Belge Tipi: Makale

Yayın Tarihi: 4/2014

Belge Dili: İngilizce

Document ID (Org No.): 2000753039

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

DOI: https://doi.org/10.3906/sag-1304-64

Point mutations

high-resolution melting analysis

denaturing high-performance liquid chromatography

Sayı

Yazarlar:

Hülya Sümer ÇELEBİ | Hilal ÖZDAĞ

Yayıncı:

TUBITAK

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 5, pp.713-719

Belge Tipi:

Makale

Yayın Tarihi:

4/2014

Belge Dili:

İngilizce

Document ID (Org No.):

2000753039

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

DOI:

https://doi.org/10.3906/sag-1304-64