gap-pcr screening for common large deletional mutations of β-globin gene cluster revealed a higher prevalence of the turkish inversion/deletion (δβ)0 mutation in antalya

gap-pcr screening for common large deletional mutations of β-globin gene cluster revealed a higher prevalence of the turkish inversion/deletion (δβ)0 mutation in antalya

;Türker Bilgen;Özden Altıok Clark;M. Akif Yeşilipek
proceedings of the international conference on iot in social, mobile, analytics and cloud, i-smac 2017 2016 Vol. 33 pp. 107-111
147
bilgen2016turkishgap-pcr

Abstract

Objective: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected β-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the β-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (δβ)0 mutation in our series of 31 cases. Our study showed that the Turkish inversion/ deletion (δβ)0 mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the β-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (δβ)0, as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gapPCR approach has valuable diagnostic potential in the patients at risk.

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