Summary
Restriction fragment length polymorphism (RFLP) in the alpha1-antitrypsin gene region was studied in relation to chronic obstructive airway disease (COAD) and pneumoconiosis. Genomic DNA of 122 studied subjects was digested with Hind III restriction endonuclease and hybridized with the alpha1-antitrypsin gene probe. In eight patients with COAD an unusual 10-kb restriction fragment was found hybridizing with the probe. Three of 70 patients were homozygotes for this variant allele and 5 were heterozygotes, showing the presence of two fragments, 2.7 kb and 10 kb. The presence of 10-kb restriction fragment seems to be related to the early development of COAD in studied subjects and therefore might be used as a genetic marker of the disease.
Similar content being viewed by others
Abbreviations
- bp:
-
base pair
- COAD:
-
chronic obstructive airway disease
- kb:
-
kilobase
- RFLP:
-
restriction fragment length polymorphism
References
Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314–331
Cooper DN, Schmidtke J (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1–16
Cox DW, Mansfield T, Woo SLC (1984) A specific pattern of polymorphic DNA fragments occurs with alpha1-antitrypsin deficiency allele, PIZ. Am J Hum Gen 36:134
Davis WR, Botstein D, Roth RJ (1980) Nick-translation procedure. In: Davis R et al. (eds) Advanced bacterial genetics. Cold Spring Harbor Laboratory, New York, pp 27–32
Editorial (1984) Molecular genetics for the clinician. Lancet I:257–259
Kalsheker N, Chiswell D, Marrham A, Imam A, Wallis S, Williamson S, Humphries SE (1985) Possible applications of recombinant DNA technology to the diagnosis and study of variants of alpha1-antitrypsin. Ann Clin Biochem 22:25–32
Kalsheker N, Hodgson I, White J, Morrison H, Burnett D, Stockley R (1986) Alpha1-antitrypsin DNA polymorphism: a new marker for genetic predisposition to bronchiectasis an pulmonary emphysema. Am Rev Respir Dis 133:A219
Kauffmann F (1984) Genetics of chronic obstructive pulmonary diseases. Searching for their heterogeneity. Bull Eur Physiopathol Respir 20:163–210
Kidd VJ, Wallace RB, Itakura K, Woo SLC (1983) Alpha1-antitrypsin deficiency detection by direct analysis of mutation in the gene. Nature 304:230–234
Malcolm ADB (1981) The use of restriction enzymes in genetic engineering. In: Williamson R (ed) Genetic engineering, vol 2. Academic Press, London, pp 129–173
Mancini F, Carbonara SO, Heremans JF (1965) Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry 2:235
Schroeder WT, Miller MF, Woo SLC, Saunders GF (1985) Chromosomal localization of the human alpha1-antitrypsin gene (PI) to 14q 31–32. Am J Hum Genet 37:868–872
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Sykes BC (1983) DNA in heritable disease. Lancet II:787
Woolf B (1955) On estimating the relation between blood group and disease. Ann Hum Genet 19:251–253
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Buraczynska, M., Schött, D., Hanzlik, A.J. et al. Alpha1-antitrypsin gene polymorphism related to respiratory system disease. Klin Wochenschr 65, 538–541 (1987). https://doi.org/10.1007/BF01727618
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01727618