Samilchuk E, D'Souza B, Voevodin A, Chuchalin A, al-Awadi S
Kuwait Medical Genetics Center, Kuwait.
Dis Markers. 1997 Apr;13(2):87-92.
The Taq1 polymorphism in the 3' flanking region of the PI gene has been reported to be associated with chronic obstructive pulmonary disease (COPD). We have studied the frequency of the Taq1 polymorphism in 117 Kuwaiti Arabs and 110 Russians using PCR/RFLP. The frequency of this polymorphism was found to be 0.235 in the Arabs and 0.027 in the Russians. Such a striking difference in allele frequencies could be due to a 'founder effect' in the Kuwaiti population. However: it may also be that this mutation provides a selective advantage, thus accounting for its fixation at a rather high frequency in some populations. Our results suggest that ethnic composition is a very important factor which should be taken into consideration when studying the association of the Taq1 polymorphism with COPD.
据报道，PI基因3'侧翼区域的Taq1多态性与慢性阻塞性肺疾病（COPD）相关。我们使用聚合酶链反应/限制性片段长度多态性（PCR/RFLP）技术研究了117名科威特阿拉伯人和110名俄罗斯人Taq1多态性的频率。结果发现，该多态性在阿拉伯人中的频率为0.235，在俄罗斯人中为0.027。等位基因频率的这种显著差异可能是由于科威特人群中的“奠基者效应”。然而，也可能是这种突变提供了一种选择优势，从而解释了它在某些人群中以相当高的频率固定下来的原因。我们的结果表明，在研究Taq1多态性与COPD的关联时，种族构成是一个非常重要的因素，应予以考虑。
