There are many candidate genes for chronic obstructive pulmonary disease (COPD). One such candidate is the group of genes that code for matrix metalloproteinases (MMPs), which play an essential role in tissue remodeling and repair associated with COPD. We tested the hypothesis that polymorphic variation in MMP genes influences the risk of developing COPD by examining functional polymorphisms in the promoters of MMP-3, MMP-9 and MMP-12 genes in 111 COPD patients and 101 controls.
Single nucleotide polymorphism
A great effort has been made to identify and map a large set of single nucleotide polymorphisms. The goal is to determine human DNA variants that contribute most significantly to population variation in each trait. Different algorithms and software packages, such as PolyBayes and PolyPhred, have been developed to address this problem. We present strategies to detect single nucleotide polymorphisms, using chromatogram analysis and consensi of multiple aligned sequences.