International Journal of
Biotechnology and Molecular Biology Research

  • Abbreviation: Int. J. Biotechnol. Mol. Biol. Res.
  • Language: English
  • ISSN: 2141-2154
  • DOI: 10.5897/IJBMBR
  • Start Year: 2010
  • Published Articles: 100

Full Length Research Paper

Lung function decline: Screening of alpha-1 antitrypsin gene in a population exposed to coal dust

M. Bhattacharjee1, B. G. Unni1*, S. Das1, M. Deka2 and P. G. Rao1
1Biotechnology Division, CSIR-North-East Institute of Science and Technology, Jorhat-785006, Assam, India. 2Department of Biological Sciences, Institute of Science and Technology, Gauhati University, Guwahati,  781014 Assam, India.  
Email: [email protected], [email protected]

  •  Accepted: 23 November 2011
  •  Published: 30 November 2011


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.