Chakraborty R, Constans J, Majumder P P
Hum Genet. 1982;62(3):193-7. doi: 10.1007/BF00333517.
It is shown that a simple preferential transmission of the PiZ allele by PiZ-heterozygous males for alpha 1-antitrypsin deficiency cannot maintain the observed polymorphism at the locus without invoking any viability or fertility selection against the PiZ gene carriers (heterozygotes or homozygotes). From the data on frequencies of PiZ alleles in Europe, the estimates of such selection coefficients are shown to be of the order of 5-20%, which seems too large for natural populations. Furthermore, an analysis of 26 nuclear families, each ascertained through a heterozygous PiZ or homozygous ZZ child, does not provide statistical evidence for such a hypothesis.
研究表明，对于α1-抗胰蛋白酶缺乏症，PiZ杂合子男性简单地优先传递PiZ等位基因，若不针对PiZ基因携带者（杂合子或纯合子）进行任何生存力或生育力选择，就无法维持该位点观察到的多态性。根据欧洲PiZ等位基因频率的数据，这种选择系数的估计值约为5%-20%，这对于自然种群来说似乎太大了。此外，对26个核心家庭的分析（每个家庭通过一个杂合子PiZ或纯合子ZZ孩子确定）并未为这一假设提供统计学证据。
