Comparison of ARMS and PCR-RFLP techniques used for the investigation of MEFV gene exon 10 point mutations in familial mediterranean fever patients living in Çukurova region

ABSTRACT Comparison of ARMS and PCR-RFLP Techniques used for the Investigation of MEFV Gene Exon 10 Point Mutations in Familial Mediterranean Fever Patients Living in Çukurova Region Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease characterized by recurrent fever, abdominal pain, arthritis and pleurisy. The disease is highly prevalent in the Mediterranean basin populations. Recently, the gene responsible for FMF (MEFV) was cloned and 29 MEFV gene mutations have been identified up to now. The most frequently observed mutations in the MEFV gene are M694V, M694I, M680I and V726A mutations which occur within the exon 10 of the gene, and account for 85% of the MEFV alleles. In this study, we analyzed frequencies of the M694V, M694I, M680I and V726A major point mutations within the exon 10 of the MEFV gene of the 50 unrelated FMF patients living in Çukurova region using ARMS and PCR-RFLP techniques, and these two techniques were compared for their reliability, timing and economical view points. The ratio of independent alleles of 50 patients carrying one of the tested mutations was 75% and patients are consisted of 12 different genotypes. In 31 of 50 patients (62%) the mutations were observed in both alleles. It was determined that 13 patients (26%) were homozygous for the same mutation, 18 (36%) were compound heterozygous for different combinations of the mutations. Thirteen patients (26%) were heterozygous for one allele with one of the tested mutations but the other allele unknown. In six patients (%12) none of the searched mutations could be detected. The most frequently observed mutation was M694V as 43%, followed by M680I as 20%, V726A as 9% and M694I as 3%. It was also observed that both of the ARMS and PCR-RFLP techniques were reliable to detect the mutations. However, the ARMS technique was found to be more rapid, practical and economical than the PCR-RFLP. Key words: Familial Mediterranean Fever, ARMS, MEFV, Mutation, PCR-RFLP XI