Nokta mutasyonlarının saptanmasında yüksek çözünürlüklü erime tekniğinin verim ve hassasiyetinin değerlendirilmesi
Özet
Mutations are defined as permanent changes in DNA sequence. The detection of sequence variation in DNA is very important in the diagnosis of both genetic and hereditary diseases. Multiple methods have been developed for mutation detection. One of them is HRM (High Resolution Melting). HRM is based on the characterization of DNA samples based on their melting profile through their transition from double strand DNA to single strand DNA.DHPLC, one of the most reliable techniques in the detection of point mutations, detects changes in melting profile of amplified DNA fragment in the presence of a heterozygote.In this study, we evaluated the efficiency and sensitivity of HRM and DHPLC in the detection of point mutations. For this purpose, we studied with MEFV (E148Q, M680I, M694V, V726A) Factor V (1691G>A) and Prothrombin (20210G>A) genes.Our study showed that HRM is as sensitive and reliable as DHPLC in the detection of point mutations, also HRM was found to be more efficient than DHPLC in terms of throughput, time and cost.