塞尔维亚的α-1-抗胰蛋白酶（Pi）多态性：Pi M亚型分布偏离哈迪-温伯格平衡
alpha-1-Antitrypsin (Pi) polymorphism in Serbia: deviation of Pi M subtype distribution from the Hardy-Weinberg equilibrium.
作者信息
Jelić-Ivanović Z, Spasojević-Kalimanovska V, Topić A, Spasić S, Petrović V
机构信息
University Clinical Centre, Pharmaceutical Faculty, Belgrade, Yugoslavia.
出版信息
Gene Geogr. 1994 Aug;8(2):129-35.
The distribution of the alpha 1-antitrypsin (Pi) phenotypes and subtypes was investigated in a population sample of 1060 unrelated individuals from Serbia (Yugoslavia). The allele frequencies estimates were: PiM1: 0.702; PiM2: 0.183; PiM3: 0.088; PiZ: 0.013, PiS: 0.007; PiP: 0.004; PiF: 0.003. The observed phenotype frequencies differed very significantly from those expected assuming H.W. equilibrium (chi 2 = 49.51, p < 0.0005). The deviation from equilibrium involved the three PiM subtypes: an excess of PiM1, PiM2 and Pi*M3 homozygotes was found, with the corresponding decreased number of M1M2 and M1M3 heterozygotes. The possible significance of this finding is discussed.
在来自塞尔维亚（南斯拉夫）的1060名无亲缘关系个体的人群样本中，研究了α1 -抗胰蛋白酶（Pi）表型和亚型的分布。等位基因频率估计值为：PiM1：0.702；PiM2：0.183；PiM3：0.088；PiZ：0.013；PiS：0.007；PiP：0.004；PiF：0.003。观察到的表型频率与假设处于哈迪 -温伯格平衡时预期的频率有非常显著差异（χ2 = 49.51，p < 0.0005）。偏离平衡涉及三种PiM亚型：发现PiM1、PiM2和Pi*M3纯合子过多，而相应的M1M2和M1M3杂合子数量减少。讨论了这一发现的可能意义。
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