Beckman G, Beckman L
Hum Hered. 1980;30(2):81-3. doi: 10.1159/000153106.
Individuals with heterozygous Pi M subtypes were found to have higher serum levels of alpha 1-antitrypsin (alpha 1-AT) than homozygotes. The alpha 1-AT levels in heterozygotes showed a unimodal distribution. Among homozygotes, a tendency towards a bimodal distribution was found. The mechanism behind this difference is not known. The result can apparently not be explained as the result of a hitherto undiscovered deficiency gene.
研究发现,Pi M亚型杂合子个体的血清α1-抗胰蛋白酶(α1-AT)水平高于纯合子。杂合子的α1-AT水平呈单峰分布。在纯合子中,则发现有双峰分布的趋势。这种差异背后的机制尚不清楚。显然,该结果无法解释为迄今未发现的缺陷基因所致。