FREQUENCY OF THREE HEMOCHROMATOSIS GENE MUTATIONS IN ANTALYA, TURKEY
Oztürk S, Lüleci G, Keser I*
*Corresponding Author: Associate Professor Dr. Ibrahim Keser, Department of Medical Genetics, School of Medicine, Akdeniz University, 07070 Antalya, Turkey; Tel.: +90-242-249-6000, Ext: 6973; Fax: +90-242-227-4484; Mobile Tel.:+90-532-788-7644; E-mail: keser@akdeniz.edu.tr
page: 25

MATERIALS AND METHODS

A total of 141 random DNA samples from healthy adult volunteers (92 females, 49 males, age ranges from 20 to 61) who reside in Antalya, Turkey, were genotyped for HFE mutations (C282Y, S65C, and H63D). Written consent was obtained from each individual enrolled in this research.

Genomic DNA was isolated from peripheral blood leukocytes by a salting-out method [8]. The mutations were detected by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method [2]. The PCR was carried out in a Thermal Cycler (Techne-Genius, Cambridge, Cambridgeshire, UK). Each exon was amplified using the primers designed by Feder et al. [2]. The amplified fragments were 208 bp for H63D and S65C and 390 bp for C282Y. The PCR products were digested with the restriction enzymes RsaI for C282Y, HinfI for S65C and MboI for H63D. The restriction fragments were visualized after electrophoresis on a 3% agarose gel stained with ethidium bromide. Quality control of the enzyme digestions was confirmed by positive and negative control DNAs.




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