The TaqI polymorphism in the 3’flanking region of the pi gene in the chronic pulmonary diseases and lung cancer
Abstract
The TaqI polymorphism in the 3’flanking region of the PI gene has been analyzed in 147 patients with different lung diseases and 110 healthy individuals. The detection of the TaqI polymorphism was carried out by a single step or two-step nested polymerase chain reaction followed by the TaqI digestion of the fmplfied product. The frequency of TaqI polymorphism was significantly higher among patients with chronic obstructive lung disease (15.15% versus 5.45%). Despite the difference between healthy controls and patients with lung cancer was nonsignificant, the X2 value for this comparison was quite close to the level of statistical significance. The group of patients with other lung diseases did not reveal any difference from the control in the frequency of TaqI polimorphism.
About the Authors
Ye. I. SamilchukRussian Federation
A. V. Gasparyan
Russian Federation
K. K. Laktionov
Russian Federation
A. G. Chuchalin
Russian Federation
References
1. Самильчук, Е.И., Лапин Б.А. Наследственный дефицит оцантитрипсина: клинические проявления, методы диагностики, перспективы лечения // Тер. арх. — 1988. — № 7. — С. 141—144.
2. Сох D.W., Billingsley G.D., Mansjield T. DNA restriction-site polymorphisms associated with the alpha-l-antitrypsin dene // Am. J. Hum. Genet. — 1987. — Vol. 41. — P. 891—906.
3. Crystal R.G. oq-antitrypsin deficiency, emphysema and liver disease // J. Clin. Invest. — 1990. — Vol. 132. — P. 417—433.
4. Hodgson I., Kalsheker N. DNA polymorphisms of the human cq-antitrypsin gene in normal subjects and in patients with pulmonary emphiseme // J. Med. Genet. — 1987. — Vol. 24. — P. 47—51.
5. Kalsheker N., Hodgson I., Watkins G.L. et al. Deoxyribonucleic acid (DNA) polymorphism of the ai-antitrypsin gene in chronic lungdisease // Br. Med. J. — 1987. — Vol. 294. — P. 1511—1577.
6. Kalssheker N., Watkins G.L., Hill S.L. et al. Independent mutations in the flanking sequence of the ai-antitrypsin dene are associated with chronic obstructive airways disease // Dis. Markers. — 1990. — Vol. 8. — P. 151—157.
7. Kalssheker N., Morgan K. Redulation of the ai-antitrypsin gene and a disease-associated mutation in a related enhancer sequence // Am. J. Respir. Crit. Care Med. — 1994. — Vol. 150. — P. S183—S189.
8. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extractind DNA from human nucleated cells // Nucl. Acid Res. — 1988. — Vol. 16. — P. 1215.
9. Morgan K., Scobie G., Kalsheker N. The characterization of a mutation of the 3’flanking sequence of the al-antitrypsin gene commonly associated with chronic obstructive airways disease // Eur. J. Clin. Invest. — 1992. — Vol. 20. — P. 1—7.
10. Morgan K., Scobie G., Kalssheker N. Point mutation in a 3’flanking sequence of the ai-antitrypsin gene associated with cnronic respiratory disease occurs in a regulatory sequence // Hum. Mol. Genet. — 1993. — Vol. 2. — P. 253—257.
11. Sambrook J., Fritsch F.F., Maniatis T. Molecular Cloning. 2-nd Ed. — Cold Spring Harbor, 1989.
12. Walsh P.C., Metzger D.A., Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material // BioTechniques. — 1991. — Vol. 10. — P. 506—513.
Review
For citations:
Samilchuk Ye.I., Gasparyan A.V., Laktionov K.K., Chuchalin A.G. The TaqI polymorphism in the 3’flanking region of the pi gene in the chronic pulmonary diseases and lung cancer. PULMONOLOGIYA. 1996;(4):17-21. (In Russ.)