Τίτλος:
THE ORIGIN OF THE SICKLE MUTATION IN GREECE - EVIDENCE FROM BETA-S
GLOBIN GENE-CLUSTER POLYMORPHISMS
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Study of the Hpa I polymorphism 3’ to the beta-globin gene in the Greek
population revealed absence of the site in 238 beta-S chromosomes, in
contrast to a much larger sample of chromosomes carrying the beta-A
gene, where this site was consistently positive. Subsequent haplotype
analysis of the beta-globin gene cluster in 82 beta-S chromosomes
demonstrated that 79 (96%) belonged to haplotype #19, while the three
exceptions (all Hpa I negative) could be explained by a delta-beta
recombination event. Haplotype #19 was never encountered in a parallel
study of the 83 beta-A chromosomes. Comparison of the above results with
similar surveys in other parts of the world and consideration of various
historical events suggest that the beta-S mutation was introduced into
Greece over the last few centuries by the Saracen raids and/or by
settlements of North African slaves brought in by the Arabs, Franks,
Venetians, or Ottoman Turks, who have occupied the country over the last
millennium.
Συγγραφείς:
BOUSSIOU, M
LOUKOPOULOS, D
CHRISTAKIS, J
FESSAS, P
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Εκδότης:
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
DOI:
10.3109/03630269109027893