Unclear line: "PI*SZ, null and about other 30 rare or null phenotypes"
From Alpha-1 Antitrypsin Deficiency PIZ and PIS Gene Frequency Distribution Using on Maps of the World by an Inverse Distance Weighting (IDW) Multivariate Interpolation Method (2012):
Alpha1-antitrypsin (AAT) deficiency is a recessive hereditary metabolic disorder which results in the synthesis and secretion of defective AAT. Up to now, about 100 genetic variants of AAT have been recognized. Protease inhibitor (PI) M (medium mobility) is the normal allele, while the two most frequent deficient alleles are PIS and PIZ. The PIZZ genotype results in very low AAT serum concentrations (10–15%), and PISZ and PIMZ phenotypes result in low to intermediate serum AAT concentrations from 35% to 70%. Other 30 variants affect the amount or the function of the AAT molecule, but clinically, most (96%) AAT deficiency-related patients are linked with the PIZz type, and the remaining 4% to PI*SZ, null and about other 30 rare or null phenotypes (1, 2).
I don't understand why null is repeated twice here. Why mention null phenotypes twice? They are all null, that is, they fail to produce a functional protein.
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