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

Annals of Human Genetics

Volumn 72, Issue 3, 2008, Pages 300-304

  Lace, Baiba ^a   Sveger, T ^b   Krams, A ^c   Cernevska, G ^d   Krumina, A ^a  

^a RIGA STRADINS UNIVERSITY   (Latvia)

^b LUND UNIVERSITY   (Sweden)

^c State Agency of Tuberculosis and Lung Diseases   (Latvia)

^d CHILDREN'S CLINICAL UNIVERSITY HOSPITAL   (Latvia)

Author keywords

Mutation age; Population studies; SERPINA1 gene

Indexed keywords

CHROMOSOME PROTEIN; PROTEINASE INHIBITOR; SERPINE1 PROTEIN; UNCLASSIFIED DRUG;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LATVIA; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MICROSATELLITE MARKER; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN;

ALPHA 1-ANTITRYPSIN; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HUMANS; LATVIA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEASE INHIBITORS; SWEDEN;

EID: 42149182429     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00431.x     Document Type: Article

References (19)

1. American Thoracic Society/European Respiratory Society Statement. (2003) Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 168, 818-900.
2. Beckman, L., Ambrasiene, D., Krumina, A., Kucinskas, V., Mikelsaar, A. V. & Sikstrom, C. (1999) A1AT (PI) Alleles as markers of West European influence in the Baltic Sea region. Hum Her 49, 52-55.
3. Blanco, I., deSerres, F. J., Bustillo, E. F., Lara, B. & Miravitlles, M. (2006) Estimated numbers and prevalence of PI*S and PI*Z alleles of sum1-antitrypsin deficiency in European countries. Eur Respir J 27, 77-84.
4. Braun, A., Meyer, P., Calve, H. & Roscher, A. A. (1996) Rapid and simple diagnosis of the two common protease inhibitor deficiency alleles PI Z and PI S by DNA analyses. Euro J Clin Chem Clin Biochem 34, 761-764.
5. Byth, B. C., Billingsley, G. D. & Cox, D. W. (1994) Physical and genetic mapping of the serpin gene cluster at 14q32.1: Allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. Am J Hum Genet 55, 126-133.
6. Chappell, S., Guetta-Baranes, T., Batowski, K., Yiannakis, E., Morgan, K., O'Connor, C. et al. (2004) Haplotypes of the alpha 1-antitrypsin gene in healthy controls and Z deficiency patients. Human Mutations 765. Online.
7. Cox, D. W. (2001) A1AT deficiency. The metabolic and molecular bases of inherited disease. New York: McGraw -Hill pp. 4125-4158.
8. Cox, D. W., Billingsley, G. D. & Mansfield, T. (1987) DNA restriction site polymorphisms associated with the alpha 1-antitrypsin gene. Am J Hum Genet 41, 891-906.
9. Cox, D. W., Woo, S. L. C. & Mansfield, T. (1985) DNA restriction fragments associated with alpha1-antitrypsin indicate a single origin for deficiency allele PIZ. Nature 316, 79-81.
10. den Dunnen, J. T. & Antonarakis, S. E. (2001) Nomenclature for the description of human sequence variations. Hum Genet 109 (1), 121-124.
11. Excoffier, L., Laval, L. & Schneider, S. (2005) Arlequin 3.0. An integrated software package for population genetics data analysis. Evolutionary Bioinformat i cs Online 1, 47-50.
12. Hutchison, D. C. (1998) Alpha-1- antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Resp Med 92, 367-377.
13. John, S. W. M., Rozen, R. & Weitzner, G. (1991) A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acid Research 19 (2), 241.
14. Kong, X., Murphy, K., Raj, T., He, C., White, P. S. et al. (2004) A combined linkage-physical map of the human genome. Am J Hum Genet 75 (6), 1143-1148.
15. Lomas, D. A. (2006) A Selective advantage of alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med 173, 1072-1077.
16. Rannala, B., Bertorelle, G. (2001) Using linked markers to infer the age of a mutation. Human Mutations 18, 87-100.
17. Seixas, S., Garcia, O., Trovoada, M. J., Santos, M. T., Amorim, A. & Rosha, J. (2001) Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: Insights into the natural history of the alpha 1 antitrypsin polymorphism. Hum Genet 108, 20-30.
18. Slatkin, M. & Rannla, B. (2000) Estimating allele age. Annu Rev Genomics Hum Genet 1, 225-249.
19. Sveger, T. (1976) Liver disease in alpha1-antitrypsin deficiency detected by screening of 200000 infants. N Eng J Med 294, No. 24, 1316-1321.