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
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2016
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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.
| Reference Key |
bilgen2016turkishgap-pcr
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|---|---|
| Authors | ;Türker Bilgen;Özden Altıok Clark;M. Akif Yeşilipek |
| Journal | proceedings of the international conference on iot in social, mobile, analytics and cloud, i-smac 2017 |
| Year | 2016 |
| DOI |
10.4274/tjh.2014.0242
|
| URL | |
| Keywords | Keywords not found |
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