Boussiou M, Loukopoulos D, Christakis J, Fessas P
Unit for Prenatal Diagnosis, Laikon Hospital, Athens, Greece.
Hemoglobin. 1991;15(6):459-67. doi: 10.3109/03630269109027893.
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.
对希腊人群中β-珠蛋白基因3'端Hpa I多态性的研究表明，在238条βS染色体中该位点缺失，与之形成对比的是，在携带βA基因的数量多得多的染色体样本中，该位点一直呈阳性。随后对82条βS染色体中的β-珠蛋白基因簇进行单倍型分析，结果显示79条（96%）属于单倍型#19，而另外三条例外情况（均为Hpa I阴性）可由δ-β重组事件来解释。在对83条βA染色体的平行研究中从未遇到过单倍型#19。将上述结果与世界其他地区的类似调查进行比较，并考虑各种历史事件，结果表明βS突变是在过去几个世纪由撒拉逊人的袭击和/或阿拉伯人、法兰克人、威尼斯人或奥斯曼土耳其人带来的北非奴隶定居点引入希腊的，这些民族在过去一千年里占领了这个国家。
