Age of SERPINA1 Gene PI Z Mutation: Swedish and Latvian Population Analysis
Version of Record online: 24 FEB 2008
©2008 The Authors Journal compilation © 2008 University College London
Annals of Human Genetics
Volume 72, Issue 3, pages 300–304, May 2008
How to Cite
Lace, B., Sveger, T., Krams, A., Cernevska, G. and Krumina, A. (2008), Age of SERPINA1 Gene PI Z Mutation: Swedish and Latvian Population Analysis. Annals of Human Genetics, 72: 300–304. doi: 10.1111/j.1469-1809.2008.00431.x
- Issue online: 24 FEB 2008
- Version of Record online: 24 FEB 2008
- Received: 23 April 2007Accepted: 14 January 2007
- SERPINA1 gene;
- mutation age;
- population studies
Alpha 1-antitrypsin (A1AT) deficiency, one of the most common inborn errors of metabolism in Caucasians, is characterized by a low serum concentration of A1AT and a high risk of pulmonary emphysema and liver disease. The allelic frequency for the most common protease inhibitor (PI) Z mutation in the SERPINA1 gene is 2–5% in Caucasians of European descent.
The objective of our study was to estimate the PI Z mutation age using molecular analysis in Latvian and Swedish populations, which have the highest frequency of PI Z mutation.
DNA samples of heterozygous and homozygous PI Z allele carriers from Latvia (n = 21) and Sweden (n = 65) were analysed; 113 unrelated healthy donors from Latvia were used as a control group. MALDI-TOF analysis was performed on all samples. Pairwise Fst was computed to compare the PI Z mutation ages between the two populations and controls. A p value less than 0.05 was considered significant.
Analysis of non-recombinant SNPs revealed that the PI Z mutation age was 2902 years in Latvia (SD 1983) and 2362 years in Sweden (SD 1614) which correlates with previous studies based on microsatellite analysis.