Lieberman J, Borhani N O, Feinleib M
Clin Genet. 1979 Jan;15(1):29-36. doi: 10.1111/j.1399-0004.1979.tb02026.x.
Serum-trypsin-inhibitory-capacity (STIC) and alpha1-antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents-of-twins. An increased prevalence (17.0--21.9%) of intermediate AAT deficiency (STIC less than 0.95 units/ml) was detected in both of these groups as compared to a prevalence of 4.1% in 1,841 healthy controls. PiS and PiZ molecular variants of AAT were also found more frequently in the twin and parent groups, but this was not statistically significant. Low levels of protease inhibition may enhance fertility and a tendency towards twinning, since proteolytic enzymes are involved in fertilization of ova by sperm and in gametogenesis. Increased fertility and twinning may be heterozygous advantages for AAT deficiency.
对83对双胞胎及112对双胞胎的父母进行了血清胰蛋白酶抑制能力(STIC)和α1抗胰蛋白酶(AAT)基因型评估。与1841名健康对照者中4.1%的患病率相比,在这两组人群中均检测到中间型AAT缺乏(STIC低于0.95单位/毫升)的患病率有所增加(17.0%-21.9%)。在双胞胎及其父母组中也更频繁地发现了AAT的PiS和PiZ分子变体,但这在统计学上并不显著。低水平的蛋白酶抑制作用可能会提高生育能力并增加双胞胎的几率,因为蛋白水解酶参与了精子对卵子的受精过程以及配子发生过程。生育能力增加和双胞胎现象可能是AAT缺乏的杂合优势。