Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.

ABSTRACT:

Background

Alpha-1-antitrypsin (AAT) deficiency is a relatively common genetic disorder that can lead to the development of pulmonary disorders. Diagnosis of AAT deficiency is typically performed by isoelectric focusing (IEF) protein phenotyping in concert with determination of AAT serum concentration levels. The "P" phenotypic variant is associated with several known genetic variants that are found at unknown relative frequencies.

Aims

To investigate the genetic variation of "P" alleles in patient samples.

Methods

A DNA sequencing protocol for the full AAT coding region from serum was developed. Additionally, a retrospective evaluation of AAT concentrations in serum samples containing "P" allele IEF phenotype variants was undertaken.

Results

"P" phenotypic var

SUBMITTER: Bornhorst JA 

PROVIDER: S-EPMC2014826 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature