BHATTACHERJEE , M and Unni , B G and Das, S and BARUAH, P K and Sharma, P and Gogoi, D and Deka, M and Wann, S B and Rao, P G
(2012)
Alpha 1 antitrypsin gene: A case-control study in chronic obstructive pulmonary disease.
African Journal of Biotechnology, 11 (1).
pp. 207-215.
ISSN 1684–5315
Abstract
Alpha-1 antitrypsin (AAT) deficiency is an inherited disorder that causes low levels of, or no AAT in the
blood. The most common illness in adults with AAT deficiency is lung disease during the third and
fourth decades of life. Most commonly, it is associated with chronic obstructive pulmonary disease
(COPD). Mutations in the protease inhibitor (PI) gene, located on chromosome 14, are associated with
this genetic disorder. The Z protein is due to a single amino acid substitution of 342 glutamine lysine.
Although cigarette smoking is the main environmental risk factor, only about 15% of smokers develop
clinically significant disease suggesting other influences on disease expression. The study included
hospital based age and sex matched 100 cases of COPD and 100 controls without COPD recruited from
Christian Medical Centre, Jorhat, Assam. These cases were recruited from February 2009 to December
2009. Subjects were included in the COPD group on the basis of lung function test. DNA extraction was
done by DNA extraction kit and amplification for AAT gene was done by site directed mutagenesis
polymerase chain reaction (PCR) method as described by Tazellar et al. (1992). We found that smoking
was the prior cause of COPD. A1AT deficiency is not prevalent in our population subset but certain
other genes could be the attributable factor for COPD.
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