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Nucleic Acids Research, 1988, Vol. 16, No. 17 8233-8243
© 1988

Articles

Diagnosis of {alpha}1 antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products

C.R. Newton, N. Kalsheker1, A. Graham, S. Powell, A. Gammack, J. Riley and A. F. Markham

ICI Diagnostics, Gadbrook Park, Northwich, Cheshire CW9 7RA, ICI Cellmark Diagnostics, Blacklands Way, Abingdon Business Park Abingdon, Oxfordshire OX 14 1DY, UK and ICI Cellmark Diagnostics 20271 Golden Rod Lane, Germantown, MD 20874, USA 1University of Wales College of Medicine, Department of Medical Biochemistry Newport Road, Cardiff, CF2 1SZ, UK

Received July 14, 1988. Revised August 5, 1988. Accepted August 5, 1988.

We have compared sequencing of cloned "polymerase chain reaction" (PCR) products and the direct sequencing of PCR products in the examination of individuals from six families affected with {alpha}1-antitrypsin (AAT) deficiency. In families where paternity was in question we confirmed consanguinity by DNA fingerprinting using a panel of locus-specific minisatellite probes. We demonstrate that direct sequencing of PCR amplification products is the method of choice for the absolutely specific diagnosis of AAT deficiency and can distinguish normals, heterozygotes and homozygotes in a single, rapid and facile assay. Furthermore, we demonstrate the reproducibility of the PCR and a rapid DNA isolation procedure. We have also shown that two loci can be simultaneously amplified and that the PCR product from each locus can be independently examined by direct DNA sequencing.


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