Familial Mediterranean fever (FMF) is an autosomal recessive disease which is characterized by recurrent fever and inflammation of serous membranes. A Chilean FMF patient was investigated for MEFV mutations. After DNA extraction, exons 3, 5, 10 and 3′UTR region of MEFV gene were analyzed by DNA sequencing while E148Q and R202Q mutations of exon 2 were detected by RFLP. A novel missense mutation, A511V (c.1532C>T, p.Ala511Val), was found in a heterozygous state in exon 5 of MEFV gene. Also, R202Q (c.605G>A, p.Arg202Gln) was detected in heterozygous state. R202Q was of clinical value in the diagnosis of FMF when combined with a disease causing mutation. In this patient, A511V was detected in compound heterozygous state with R202Q and this association may play an important role in FMF.
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