Arrieta M I, Martinez B, Millan J M, Gil A, Monros E, Nuñez T, Telez M, Martinez F
Departamento de Biología Animal y Genética, Universidad del País Vasco, Spain.
Gene Geogr. 1997 Apr;11(1):61-72.
Microsatellites can be highly unstable and show a high level of polymorphism between individuals. Here we present the analysis of the CAG trinucleotide repeat polymorphism at the SBMA locus in 57 phenotypically normal individuals rigorously assigned to the Spanish Basque population. Results are compared with 100 Spanish non-Basque individuals who were already analyzed by us (175 alleles). This is the first study undertaken in these populations for this marker. In addition, we compared our results with those published for other populations. Relative allele frequencies showed differences between the samples and no unimodal distribution. The expected heterozygosity in the Basque sample was slightly lower than in the non-Basque sample. Conformity with Hardy-Weinberg equilibrium was verified by three tests. When compared with published data, the predominant alleles appear to be the same in the various populations. There are more differences between Basques and other Caucasoid samples than between non-Basques and Caucasoid samples. Population relationships were also examined by dendrograms based on genetic distances. The results obtained showed some peculiarities in the Basque population. The high degree of similarity with other dendrograms based on different markers and the efficiency of this STR marker in differentiating closely related populations, support the potential usefulness of microsatellites as tools for human population studies.
微卫星可能高度不稳定，且在个体之间表现出高水平的多态性。在此，我们展示了对57名表型正常且被严格认定为西班牙巴斯克人群体的个体在SBMA位点的CAG三核苷酸重复多态性的分析。将结果与我们之前已分析过的100名西班牙非巴斯克个体（175个等位基因）进行比较。这是在这些人群中针对该标记进行的首次研究。此外，我们还将我们的结果与其他人群已发表的结果进行了比较。相对等位基因频率在样本之间显示出差异，且不存在单峰分布。巴斯克样本中的预期杂合度略低于非巴斯克样本。通过三项检验验证了与哈迪-温伯格平衡的一致性。与已发表数据相比，不同人群中主要等位基因似乎相同。巴斯克人与其他高加索人种样本之间的差异比非巴斯克人与高加索人种样本之间的差异更多。还通过基于遗传距离的树状图研究了群体关系。所获得的结果显示了巴斯克人群体的一些独特之处。与基于不同标记的其他树状图的高度相似性以及该STR标记在区分密切相关群体方面的有效性，支持了微卫星作为人类群体研究工具的潜在实用性。
