Detection of the Lepore and Asian-Indian beta-globin gene deletions with duplex-PCR

Abstract:
Beta-thalassemia is one of the most common single-mutation diseases. These mutations cause decreased beta-globin protein synthesis or even deletion. Most of the mutations in beta-globin gene are point mutations but there are some small and big deletions in beta-globin gene cluster. The goal of this research is to detect and study two deletions (Lepore, Asian-Indian) with duplex-PCR. Materials and Methods This study was done on 3 Asian-Indian deletion samples and 10 Lepore samples. After detecting two deletions (Lepore and Asian-Indian), we started setting Gap-PCR in these two known deletions. Duplex-PCR with 8 different primers for detecting Lepore and Asian-Indian deletions simultaneously was set at 68ºC annealing temperature; these two deletions can be detected easily in one reaction with this new method. Results The results show that detecting Lepore and Asian-Indian deletions with multiplex PCR is practical, and the specific bands for each deletion are detectable. Conclusions Detecting these two deletions in one reaction (Duplex-PCR) is practical. This method is easy, reliable, and fast; it is also economical and saves both time and money.
Language:
Persian
Published:
Scientific Journal of Iranian Blood Transfusion Organization, Volume:7 Issue: 4, 2011
Page:
214
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