3.1. TESTING FOR DISEASE CAUSING MUTATIONS OR CLINICALLY RELEVANT POLYMORPHISMS As mutations underlying a number of disease have already been identified, SNPs have great importance in many clinical diagnostic settings, including but not exclusive to (1) the extensive diversity of the human leukocyte antigen (HLA) loci, important in solid organ and bone marrow transplantation, (2) the allelic variation found in hematological antigen systems relevant in
From: Molecular Diagnostics: For the Clinical Laboratorian, Second Edition Edited by: W. B. Coleman and G. J. Tsongalis © Humana Press Inc., Totowa, NJ
blood banking and maternal-fetal incompatibilities, as well as (3) the numerous polymorphisms associated with coagulation disorders/cardiovascular disease, such as the Factor V (Leiden) G1691A, Factor II G20210A, or methylene tetrahydrofolate reductase C677T mutations (8-10). In addition, the underlying mutations for a broad variety of rare diseases have been identified. For example, mutations in a number of genes have been identified as the underlying cause for rare forms of hypertension and hypotension (11-13). Although it is still under investigation whether the genes underlying rare disease also contribute to common diseases such as primary hypertension, these described mutations are not routinely used for diagnostic testing. The identification of the mutations underlying cystic fibrosis was a significant scientific finding as an example for more common diseases and a large number of studies followed investigating the effect of mutations in the underlying gene with regard to disease characteristics and progression (14). Most recently, the identification of mutations in CARD15/NOD2 determining the risk of inflammatory bowel disease (IBD) might serve as an additional example of the progress toward the identification of SNPs for more common diseases (15,16). Subsequently, a number of studies examined the effect of these mutations on the disease pattern and clinical characteristics of IBD in different populations (17-19). Although the number of SNPs, which are used as direct diagnostic tests, is still limited, these first examples might demonstrate that the need for diagnostic typing will increase substantially in the future. With regard to the assay requirements for this purpose, diagnostic labs might mainly use a limited number of SNP assays with pre-established methods, which are robust and highly reliable and can be performed without significant specialization in a routine laboratory environment.
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