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Dergiler / Turkish Journal of Medical Sciences / 2014 / Cilt: 44 - Sayı: 5

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
Sayfa
713–719
Yayın Tarihi
2014-05-01
DOI
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Conclusion: Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Sensitive and cost-effective detection of point mutations is important in genetics research.
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Temel Bulgular & Veri:Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection.
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Sonuç & Katkı:Conclusion: Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Point mutations · high-resolution melting analysis · denaturing high-performance liquid chromatography

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.

Abstract

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.

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Bu Makaleye Atıf Yap

ÇELEBİ, H. S., ÖZDAĞ, H. (2014). Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes. Turkish Journal of Medical Sciences, Cilt: 44 - Sayı: 5, 713–719. https://ajindex.com/articles/186261

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