The origin of the sickle mutation in Greece; evidence from beta S globin gene cluster polymorphisms.
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.
Unit for Prenatal Diagnosis, Laikon Hospital, Athens, Greece.
M
M
Boussiou
D
D
Loukopoulos
J
J
Christakis
P
P
Fessas
D000352:Africa, Northern / Q000208:ethnology; D000755:Anemia, Sickle Cell / Q000208:ethnology / Q000235:genetics*; D016000:Cluster Analysis; D005006:Ethnicity; D005787:Gene Frequency; D005796:Genes; D005914:Globins / Q000235:genetics*; D006115:Greece / Q000453:epidemiology; D006239:Haplotypes / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D011995:Recombination, Genetic; D012805:Sickle Cell Trait / Q000453:epidemiology
D006451:Hemoglobin, Sickle; D005914:Globins