Seri M, Magi B, Cellesi C, Olia P M, Renieri A, De Marchi M
Dipartimento di Biologia Molecolare, Università degli Studi di Siena, Italy.
Int J Clin Lab Res. 1992;22(2):119-21. doi: 10.1007/BF02591409.
Two rare alpha 1-antitrypsin variants, Pi I and Plowell, originally defined at the protein level through isoelectric focusing, were characterized at the DNA level by the polymerase chain reaction and direct sequencing. The I variant was confirmed in one individual and three independent families to result from a CGC(Arg) to TGC(Cys) transition at codon 39, within exon II. In our population, the Pi I variant might be more common than expected. The Plowell allele was shown in one M3P heterozygous individual to be due to a GAT(Asp) to GTT(Val) change at codon 256, in agreement with a previous study based on hybridization with allele-specific oligonucleotides.
两种罕见的α1-抗胰蛋白酶变体，即Pi I和Plowell，最初通过等电聚焦在蛋白质水平上定义，随后通过聚合酶链反应和直接测序在DNA水平上进行了特征分析。在一个个体和三个独立家族中确认I变体是由外显子II内第39密码子处的CGC（精氨酸）向TGC（半胱氨酸）转变所致。在我们的人群中，Pi I变体可能比预期的更常见。在一名M3P杂合个体中显示，Plowell等位基因是由于第256密码子处的GAT（天冬氨酸）向GTT（缬氨酸）的变化，这与先前基于等位基因特异性寡核苷酸杂交的研究结果一致。
