Martin J P
Pathol Biol (Paris). 1975 Sep;23(7):521-4.
The existence of the Pi- allele (Pi null) was envisaged by Talamo when he discovered a subject whose serum contained no alpha-1-antitrypsin. We were able to demonstrate that a single dose of this allele exists in three families which we studied. In a fourth family, the propositus carried this allele in duplicate (phenotype Pi- -), which agrees with the results of the quantitative analyses carried out on the parents. The importance of the Pi- allele is envisaged and the necessity of the genetic survey is generally essential to demonstrate its existence.
当塔拉莫发现一名血清中不含α-1抗胰蛋白酶的受试者时,他设想了Pi-等位基因(Pi无效)的存在。我们能够证明,在我们研究的三个家族中存在单剂量的这种等位基因。在第四个家族中,先证者携带了两个拷贝的该等位基因(表型Pi--),这与对其父母进行的定量分析结果一致。Pi-等位基因的重要性已被设想,而进行基因调查对于证明其存在通常至关重要。