Candidate gene studies in respiratory disease: avoiding the pitfalls

Hall, I.
May 2002
Thorax;May2002, Vol. 57 Issue 5, p377
Academic Journal
This article presents a discussion on the various pitfalls of respiratory disease studies. It is estimated that single nucleotide polymorphisms (SNPs) occur at a rate of approximately 1 in 300 base pairs in non-coding DNA. Although the majority of polymorphic variation is accounted for by SNPs of which two million are currently described in the public databases, other polymorphisms do occur less frequently including deletions and insertions, both of which may introduce frame shifts. Because recombination is rare between polymorphisms which are close together in genetic terms, association studies are further complicated by the phenomenon of linkage disequilibrium.


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