title: Alpha-1-antitrypsin genotyping with mouthwash specimens.
abstract: Alpha1-antitrypsin (alpha1-AT) deficiency is diagnosed as a two-stage procedure (concentration and phenotype). However the latter does not provide clues to the presence of null genes without family studies and obtaining blood from patients at a distance often proves difficult. The aim of the study was to assess the feasibility of genotyping alpha1-AT using buccal cells. Mouthwash specimens were sent by 84 patients (with a variety of phenotypes of alpha1-antitrypsin) through the post. Deoxyribonucleic acid (DNA) was isolated from buccal cells in each sample and subjected to polymerase chain reaction (PCR) using a genotyping kit to detect the S and Z alleles. Eighty-three of 84 samples received were suitable for amplification. The specific primers successfully identified the S and Z alleles in each case. However, five of the 35 samples obtained from patients thought to be Z allele homozygotes were found to be heterozygotes for another severe deficiency allele. These data confirm the feasibility of "at distance" testing for alpha1-antitrypsin deficiency alleles using buccal cells from mouthwash samples. The results raise the possibility that other deficiency alleles are more common than has previously been suspected.
authors.affiliation: Dept. of Medicine, Queen Elizabeth Hospital, Birmingham, UK.
authors.forename: R A
authors.initials: RA
authors.lastname: Stockley
authors.forename: E J
authors.initials: EJ
authors.lastname: Campbell
mesh_terms: D005240:Feasibility Studies; D005838:Genotype; D006801:Humans; D009061:Mouth Mucosa / Q000166:cytology*; D009067:Mouthwashes; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D009067:Mouthwashes; D000515:alpha 1-Antitrypsin