dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Mean, R. | en |
dc.contributor.author | Rossou, Elena | en |
dc.contributor.author | Costi, Constantina Eleni | en |
dc.contributor.author | Koupepidou, P. | en |
dc.contributor.author | Hadjiyanni, I. | en |
dc.contributor.author | Koptides, Michael | en |
dc.contributor.author | Hadjiroussos, V. | en |
dc.contributor.author | Petrou, P. | en |
dc.contributor.author | Pierides, Alkis M. | en |
dc.contributor.author | Lamnissou, Klea | en |
dc.contributor.author | Koptides, M. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Mean, R. | en |
dc.creator | Rossou, Elena | en |
dc.creator | Costi, Constantina Eleni | en |
dc.creator | Koupepidou, P. | en |
dc.creator | Hadjiyanni, I. | en |
dc.creator | Koptides, Michael | en |
dc.creator | Hadjiroussos, V. | en |
dc.creator | Petrou, P. | en |
dc.creator | Pierides, Alkis M. | en |
dc.creator | Lamnissou, Klea | en |
dc.creator | Koptides, M. | en |
dc.date.accessioned | 2019-11-04T12:50:27Z | |
dc.date.available | 2019-11-04T12:50:27Z | |
dc.date.issued | 2002 | |
dc.identifier.issn | 1090-6576 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53025 | |
dc.description.abstract | Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. The responsible gene MEFV has been assigned to chromosome 16p13.3. Our aim was to establish the frequencies of the most common mutations in Greek-Cypriots. We found that 1 in 25 is a carrier of one of three mutations. V726A, M694V, and F479L. In 68 Greek-Cypriot FMF chromosomes analyzed, we found V726A (25%), F479L (20.6%), M694V (17.6%), and others (36.8%). Mutation F479L, relatively common in this population, is very rare elsewhere. Our study indicates that FMF is not a rare condition in Cyprus and that, because of the significant morbidity associated with this disorder, which is often diagnosed only after unnecessary surgeries, a newborn screening program to detect affecteds in this population may be warranted. | en |
dc.source | Genetic testing | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036016985&doi=10.1089%2f109065702760093861&partnerID=40&md5=4033ae5a00f1c80863fb380ea9721c25 | |
dc.subject | Cyprus | en |
dc.subject | Greece | en |
dc.subject | article | en |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | female | en |
dc.subject | male | en |
dc.subject | gene frequency | en |
dc.subject | genetics | en |
dc.subject | Ethnic Groups | en |
dc.subject | gene mutation | en |
dc.subject | mutation | en |
dc.subject | ethnology | en |
dc.subject | chromosome analysis | en |
dc.subject | autosomal recessive disorder | en |
dc.subject | Support, Non-U.S. Gov't | en |
dc.subject | pedigree | en |
dc.subject | chromosome 16p | en |
dc.subject | ethnic group | en |
dc.subject | familial Mediterranean fever | en |
dc.subject | Arab | en |
dc.subject | jew | en |
dc.subject | newborn screening | en |
dc.title | Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1089/109065702760093861 | |
dc.description.volume | 6 | |
dc.description.startingpage | 15 | |
dc.description.endingpage | 21 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :33</p> | en |
dc.source.abbreviation | Genet.Test. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |