Distribution and frequency of beta-thalassemia mutations in northwestern and central Greece
Φόρτωση...
Ημερομηνία
Συγγραφείς
Georgiou, I.
Makis, A.
Chaidos, A.
Bouba, I.
Hatzi, E.
Kranas, V.
Zilidis, C.
Bourantas, K. L.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Eur J Haematol
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
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.
Περιγραφή
Λέξεις-κλειδιά
DNA Mutational Analysis, Gene Frequency, Genetic Testing, Globins/genetics, Greece/epidemiology, Humans, *Mutation, Topography, Medical, beta-Thalassemia/epidemiology/*genetics
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/12581187
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
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
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής