Alpha-1 antitrypsin (AAT) deficiency is an inherited disorder that causes low levels of, or no alpha-1 antitrypsin in the blood. Most commonly, it is associated with chronic obstructive pulmonary disease (COPD). COPD includes chronic bronchitis and emphysema chronic bronchitis - inflammation of the lining of the bronchial tubes emphysema - permanent destruction of the alveoli. Mutations in the 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 to lysine .Chronic respiratory diseases have a pre-eminent role in the health conditions of people residing near coalmine areas with implications for morbidity and excess mortality from specific causes. We screened 412 individuals (COPDs and Non-COPDs) for carriers of deficient ZZ allele of AAT gene at the coal mine site, Assam. DNA extraction was done by standard phenol chloroform method and amplification for Alpha-1-antitrypsin gene was done by site directed mutagenesis PCR method. Coal dust exposure was a potential factor in development of COPD. AAT deficiency was not found to be present in our study population.
Key words: COPD, A1AT gene, Coal Dust, ZZ type, air pollution.
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