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Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis

Lace, B.; Sveger, Tomas LU ; Krams, A.; Cernevska, G. and Krumina, A. (2008) In Annals of Human Genetics 72(3). p.300-304
Abstract
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
population studies, SERPINA1 gene, mutation age
in
Annals of Human Genetics
volume
72
issue
3
pages
300 - 304
publisher
Wiley-Blackwell
external identifiers
  • wos:000254927100002
  • scopus:42149182429
ISSN
1469-1809
DOI
10.1111/j.1469-1809.2008.00431.x
language
English
LU publication?
yes
id
0329c63a-65d9-4d86-9eb7-d184ea1cd4d7 (old id 1206543)
date added to LUP
2008-08-28 14:02:04
date last changed
2017-11-12 03:29:36
@article{0329c63a-65d9-4d86-9eb7-d184ea1cd4d7,
  abstract     = {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.},
  author       = {Lace, B. and Sveger, Tomas and Krams, A. and Cernevska, G. and Krumina, A.},
  issn         = {1469-1809},
  keyword      = {population studies,SERPINA1 gene,mutation age},
  language     = {eng},
  number       = {3},
  pages        = {300--304},
  publisher    = {Wiley-Blackwell},
  series       = {Annals of Human Genetics},
  title        = {Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis},
  url          = {http://dx.doi.org/10.1111/j.1469-1809.2008.00431.x},
  volume       = {72},
  year         = {2008},
}