Balkan Journal of Medical Genetics

THE MEFV GENE PATHOGENIC VARIANTS AND PHENOTYPE-GENOTYPE CORRELATION IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER IN THE ÇANAKKALE POPULATION
Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F1, Tekin M1, Kaymaz N1, Ozdemir O,
*Corresponding Author: Assistant Professor Dr. Şule Yıldırım, Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Terzioğlu Yerleşkesi Ek Bina, 17100, Çanakkale, Turkey. Tel: +90-286-2180018/2107. Fax: +90- 286-263-59-56. E-mail: sule.yildirim@comu.edu.tr
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MATERIALS AND METHODS

Patient Group. In this case-control study, the aim was to investigate the type and prevalence of MEFV gene pathogenic variants in children/patients presenting with minor and/or major manifestations of FMF. The MEFV gene spans were genotyped in a total of 60 patients, using pyrosequencing and direct sequencing methods for the current cohort. Sixty peripheral blood samples were obtained from a group suspected of having FMF: 28 males (46.7%), 32 females (53.3%), with a mean age (minimummaximum): 10.48 ± 4.83 (3-18 years). This retrospective case-control study was carried out in collaboration with the Department of Medical Genetics and Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey, between March 2012 and October 2013. Genotyping. Peripheral blood samples (collected in vacutainers containing EDTA as anticoagulant) and buccal smears were used for genomic DNA isolation, and this was carried out by the spin-column method (Roche, Mannheim, Germany). The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques. The 22 common pathogenic variants profiles (p.Glu148Gln, p.Pro369Ser, p.His478Tyr, p.Phe479Leu, p.Ser675Asn, p.Gly678Glu, p.Met680Leu, p.Met680Ile (G>A), p.Met680Ile (G>C), p.Thr681Ile, p.(Ile692del), p.Met694Val, p.Met694Leu, p.Met694Ile, p.Lys695Arg, p.Lys695Met, p.Arg718Ser, p.Ile720Met, p.Val722Met, p.Val726Ala, p.Ala744Ser and p.Arg761 His) were genotyped by pyrosequencing (Qiagen, Hilden, Germany). Some patients who had clinical features without mutated pyrosequencing profiles were genotyped for MEFV exon 2 and 10 by direct sequencing analysis in the current cohort. The GML (GML AG, Wollerau, Switzerland) kit for specific FMF sequencing was used for target exon genotyping. The polymerase chain reaction (PCR) products were purified and sequenced on both strands by an ABI PRISM® 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA). Statistical Analysis. Alternative mutated frequencies for the MEFV gene in children presenting with FMF and some clinical findings were compared using Pearson χ2 and multiple logistic regression analysis. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS), version 19 (SPSS Inc., Chicago, IL, USA) and a p value <0.05 was considered statistically significant.

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