Familial Mediterranean fever in Georgia.

[familial mediterranean fever]

Familial Mediterranean Fever (FMF ) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene . Carrier rates are known to be particularly high among Sephardic Jews , Turks , Armenians and Arab populations . Our literature survey regarding FMF and MEFV mutations in Georgia revealed a lack of existing studies . We applied multiplex PCR and reverse-hybridization teststrips (FMF StripAssay ) to simultaneously analyze twelve common MEFV mutations in DNA samples from dried blood on filter cards , which had been obtained from 202 unselected newborns at various hospitals in Tbilisi , Georgia . We found 30 samples to be heterozygous and one to be compound heterozygous or carrier of a complex allele (two mutations in cis ). The carrier rate of MEFV mutations (15 .3 %) was remarkable . The most frequently observed variants were E 148 Q (15 x ), M 680 I G /C (5 x ) and M 694 V (4 x ). Five other MEFV mutations were found at lower prevalence (V 726 A , A 744 S , R 761 H : 2 x each ; P 369 S , F 479 L : 1 x each ). Based on these new findings , the awareness for FMF and the availability of appropriate testing should be further promoted in Georgia .

Diseases
Validation

Diseases presenting "mutations in the mefv gene" symptom

familial mediterranean fever

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