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Distribution of the CCR5-delta32 deletion in Southwest Germany

机译:CCR5-delta32缺失在德国西南部的分布

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摘要

A 32 base pair deletion in the c-c chemokine receptor gene 5 (CCR5) leads to an inactive protein. Carriers of this deletion must have had a selective advantage because the allelic frequency of the CCR5-delat32 mutation is much higher than expected. Furthermore, there is a decline from North to South Europe. For Germany there are just very few cross-sectional surveys available. Here we investigated a large number of healthy blood donors from Northern Baden-Wuerttemberg. We observed an allelic frequency of 9.21 % of the CCR5-delta32 deletion. The distribution did not follow the Hardy-Weinberg equilibrium suggesting that homozygous carriers of the deletion were overrepresented in this random sample.
机译:c-c趋化因子受体基因5(CCR5)中32个碱基对的缺失导致蛋白质失活。这种缺失的载体必须具有选择优势,因为CCR5-delat32突变的等位基因频率远高于预期。此外,从北欧到南欧都有下降。对于德国,只有很少的横断面调查。在这里,我们调查了北巴登-符腾堡州的大量健康献血者。我们观察到CCR5-delta32缺失的等位基因频率为9.21%。该分布不符合哈迪-温伯格平衡,表明该缺失的纯合子携带者在该随机样本中过分代表。

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