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Alpha-1-antitrypsin genotyping with mouthwash specimens

¹ Dept of Medicine, Queen Elizabeth Hospital, Birmingham, UK and ² Heredilab Inc, University of Utah, Salt Lake City, Utah, USA

CORRESPONDENCE: R.A. Stockley, Dept of Medicine, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK. Fax: 44 121 6978256

Keywords: alpha-1-antitrypsin, deficiency, genotyping, polymerase chain reaction

Received: June 22, 2000
Accepted October 24, 2000

This project was part of the ADAPT programme funded through a noncommercial grant by Bayer Corporation USA. Asta/Zeneca Diagnostics provided reagents.

₁-antitrypsin (₁-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 ₁-AT using buccal cells.

Mouthwash specimens were sent by 84 patients (with a variety of phenotypes of ₁-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 ₁-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.

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