Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Pagava, K; Rauscher, B; Korinteli, IA; Shonvadze, D; Kriegshauser, G; Oberkanins, Ch.
Familial Mediterranean fever in Georgia.
Georgian Med News. 2014; 95(230): 79-82.
PubMed
- Co-Autor*innen der Med Uni Graz
- Kriegshäuser Gernot
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Abstract:
- 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 E148Q (15x), M680I G/C (5x) and M694V (4x). Five other MEFV mutations were found at lower prevalence (V726A, A744S, R761H: 2x each; P369S, F479L: 1x each). Based on these new findings, the awareness for FMF and the availability of appropriate testing should be further promoted in Georgia.
- Find related publications in this database (using NLM MeSH Indexing)
- Cytoskeletal Proteins - genetics
- Ethnic Groups - genetics
- Familial Mediterranean Fever - epidemiology Familial Mediterranean Fever - genetics Familial Mediterranean Fever - pathology
- Gene Frequency -
- Gene Frequency -
- Heterozygote -
- Humans -
- Infant, Newborn -
- Mutation -
- Phenotype -