Touinssi Mhammed, Chiaroni Jacques, Degioanni Anna, Granier Thomas, Dutour Olivier, Bailly Pascal, Bauduer Frédéric
Pôle du Polymorphisme Génétique Humain, Laboratoire d'Hématologie Moléculaire, Etablissement Français du Sang Alpes-Méditerranée, 13009 Marseille, France.
Am J Hum Biol. 2008 May-Jun;20(3):308-11. doi: 10.1002/ajhb.20720.
The Basques demonstrate peculiar characteristics regarding blood group systems. Although ABO, Rhesus, and Duffy have been extensively studied in this population, the distribution of other groups remains largely unknown. Therefore, we evaluated the frequency of less-explored- or still noninvestigated blood groups using DNA-based assays and interpreted these data in the view of population genetics. Polymorphisms of KEL (Kell), SLCA14A1 (Kidd), GYPA/GYPB (MNS), ART4 (Dombrock), AQP1 (Colton), and ACHE (Yt) blood group genes were determined from a sample of more than 100 autochthonous French Basques using allele-specific primer PCR (PCR-ASP) methods. Our results were compared with those previously obtained by the use of serology from both Basque and non-Basque European populations. MNS1 and JK1 allele frequencies were comparable with those reported from Basque samples. Conversely, the KEL1 allele frequency differed significantly. To our knowledge, this is the first time that the other three systems are studied in the Basque population. DO1 and CO*1 allele frequencies, being respectively 0.35 and 0.96, were significantly inferior to those published from various European populations. There were some discrepancies regarding these six blood systems when comparing molecular typing with serology. These findings may be explained by differences in either criteria for individual selection or technical assays. Nevertheless, these results constitute additional data to be included in the chapter of Basque biological anthropology.
巴斯克人在血型系统方面表现出独特的特征。尽管ABO、恒河猴和达菲血型系统在该人群中已得到广泛研究，但其他血型系统的分布情况仍 largely unknown。因此，我们使用基于DNA的检测方法评估了较少被探索或仍未被研究的血型的频率，并从群体遗传学的角度解释了这些数据。通过等位基因特异性引物PCR（PCR-ASP）方法，从100多名法国本土巴斯克人的样本中确定了KEL（凯尔）、SLCA14A1（基德）、GYPA/GYPB（MNS）、ART4（唐布鲁克）、AQP1（科尔顿）和ACHE（Yt）血型基因的多态性。我们的结果与之前通过血清学方法从巴斯克和非巴斯克欧洲人群中获得的结果进行了比较。MNS1和JK1等位基因频率与巴斯克样本中报道的频率相当。相反，KEL1等位基因频率存在显著差异。据我们所知，这是首次在巴斯克人群中对其他三个系统进行研究。DO1和CO*1等位基因频率分别为0.35和0.96，明显低于从各种欧洲人群中公布的频率。在将分子分型与血清学进行比较时，这六个血型系统存在一些差异。这些发现可能是由于个体选择标准或技术检测方法的差异所致。尽管如此，这些结果构成了巴斯克生物人类学章节中应包含的额外数据。
