Distribution and frequency of beta-thalassemia mutations in northwestern and central Greece
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Makis, A. | en |
| dc.contributor.author | Chaidos, A. | en |
| dc.contributor.author | Bouba, I. | en |
| dc.contributor.author | Hatzi, E. | en |
| dc.contributor.author | Kranas, V. | en |
| dc.contributor.author | Zilidis, C. | en |
| dc.contributor.author | Bourantas, K. L. | en |
| dc.date.accessioned | 2015-11-24T19:24:05Z | |
| dc.date.available | 2015-11-24T19:24:05Z | |
| dc.identifier.issn | 0902-4441 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/22416 | |
| dc.rights | Default Licence | - |
| dc.subject | DNA Mutational Analysis | en |
| dc.subject | Gene Frequency | en |
| dc.subject | Genetic Testing | en |
| dc.subject | Globins/genetics | en |
| dc.subject | Greece/epidemiology | en |
| dc.subject | Humans | en |
| dc.subject | *Mutation | en |
| dc.subject | Topography, Medical | en |
| dc.subject | beta-Thalassemia/epidemiology/*genetics | en |
| dc.title | Distribution and frequency of beta-thalassemia mutations in northwestern and central Greece | en |
| heal.abstract | OBJECTIVES: Beta-Thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of the beta-globin genes. The spectrum of beta-thalassemia mutations in Greece has been previously described in the population of the capital city of Athens, or in beta-thalassemia patients having transfusion therapy. The aim of the present study was to identify the distribution of the most common beta-thalassemia mutations in the population of northwestern and central Greece. METHODS: The data for this study were derived from a total of 1,130 unrelated subjects including 46 beta-thalassemia major, three beta -thalassemia intermedia and 1,081 carriers identified in our antenatal screening program. beta-Thalassemia mutations were identified by ARMS, DGGE and Reverse Dot Blot. RESULTS: The most common mutation, IVS-I-110, is followed, in order of frequency, by the mutations Cd-39, IVS-I-1, IVS-II-1, Cd-6, IVS-I-6, IVS-I-5, IVS-II-745, Cd-5 and 44 bp del. IVS-I-110 and Cd-39 frequencies are similar with those found in other Balkan countries. Significant differences in regional distribution were observed. The results showed a clear drift of the distribution of the most frequent IVS-I-110 mutation in the south-north (29.4, 40.0, 44.6 and 61.7%) and the east-west axis (31.8 and 44.6%). CONCLUSIONS: Population screening and prenatal diagnosis are significantly facilitated by these data. Furthermore, the detailed distribution tables of beta-thalassemia mutations are essential for counseling and extraction of genetic diversity estimates for population genetic studies in other inherited disorders. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/12581187 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1034/j.1600-0609.2003.00017.x/asset/j.1600-0609.2003.00017.x.pdf?v=1&t=h2bonuxm&s=e22b196cfe18a6f6964beff9233d56a9f1aede9b | - |
| heal.journalName | Eur J Haematol | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 2003 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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