Alpha-1-antitrypsin: frequencies of PiM subtypes in a Saudi population

ABSTRACT

The frequency of the alpha-1-antitrypsin [Alpha 1-AT] variants and PiM subtypes was investigated in the Saudi population from the central province using isoelectric focusing on immobilized gels [pH 4.0-5.0]. The PiMI, M2, MS and M4 variants were identified both in homozygous and heterozygous states. In addition, PiZ and PiS were identified in this population. The gene frequencies of PiM 1, M2, M3, M4, Z and S variants were 0.6458, 0.1750, 0.0750, 0.0208, 0.0333 and 0.050, respectively. This paper reports for the first time in Saudis, the heterogeneity of Pi alleles which suggests the desirability of further detailed investigations to identify the presence of other rare Alpha 1-AT phenotypes