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Biochem Genet (2009) 47:540546
DOI 10.1007/s10528-009-9250-6
Aylin Kseler Ayfer Atalay Erolmer Atalay
Received: 11 April 2008 / Accepted: 6 February 2009 / Published online: 7 June 2009 Springer Science+Business Media, LLC 2009
Abstract The variable numbers of tandem repeats (VNTR) locus D1S80, located on chromosome 1 (1p35-36), has a repeat unit 16 bp in length, and different numbers of these repeat units have been observed for populations of different origins and ethnicity. We used a molecular identication method based on capillary electrophoresis separation to analyze D1S80 locus polymorphism among 74 subjects from Denizli province, Turkey, nding an amplied fragment length size of 379 635 bp. Allele repeat numbers were deduced from these sizes and sequence comparison. The most common alleles were repeat units 24 (34.3%) and 18 (22.4%), with frequencies of 0.414 and 0.207, respectively. Other alleles were 25 (7.86%), 28 (5.71%), 22 (4.25%), and 29 (2.86%). The allele with 23 repeat units was not observed. Results were in HardyWeinberg linkage disequilibrium. Observed heterozygosity was 0.614, and expected heterozygosity was 0.787. Theta(k) value was 4.86 (95% condence interval limits). Capillary electrophoresis is a powerful approach for accurate identication of VNTR loci, especially for low base pair units like D1S80, for prenatal diagnosis, linkage analysis, forensic identication, paternity testing, anthropological research, and phylogenetic studies.
Keywords VNTR D1S80 Polymorphism Prenatal diagnosis
Capillary electrophoresis
A. Kseler (&) A. Atalay E.. Atalay
Department of Biophysics, Faculty of Medicine, Pamukkale University, Denizli, Turkey e-mail: [email protected]
A. Atalaye-mail: [email protected]
E.. Atalaye-mail: [email protected]
Allele Frequency of VNTR Locus D1S80 Observed in Denizli Province of Turkey
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Introduction
The human genome contains a large amount of highly repetitive DNA sequences, including many variable numbers of tandem repeats (VNTR). Minisatellite loci are also known to be composed of tandem repeat sequences of 9100 base pairs (bp) showing substantial allelic variability, depending on their number of repeat units (Naslund et al. 2005). Different numbers of tandem repeats have been observed for populations of different origins and ethnicity (Destro-Bisol et al. 2000; Buresi et al. 1996; Poltl et al. 1996). Because of their characteristic repetitive nature, the VNTR markers have been used for a number of applications, including prenatal diagnosis, linkage analysis, forensic identication, paternity testing, anthropological research, and phylogenetic studies...