title: 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.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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 gap-PCR approach has valuable diagnostic potential in the patients at risk.
authors.affiliation: Namık Kemal University Central Research Laboratory (NABİLTEM), Tekirdağ, Turkey, E-mail : tbilgen@nku.edu.tr, tbilgen@akdeniz.edu.tr.
authors.forename: Türker
authors.initials: T
authors.lastname: Bilgen
authors.forename: Özden
authors.initials: Ö
authors.lastname: Altıok Clark
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Öztürk
authors.forename: M Akif
authors.initials: MA
authors.lastname: Yeşilipek
authors.forename: İbrahim
authors.initials: İ
authors.lastname: Keser
mesh_terms: D000483:Alleles; D005260:Female; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008403:Mass Screening; D005810:Multigene Family; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015995:Prevalence; D014421:Turkey / Q000453:epidemiology; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D055544:beta-Globins