Distribution and frequency of beta-thalassemia mutations in northwestern and central Greece
Φόρτωση...
Ημερομηνία
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