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Gene SNPs and mutations in clinical genetic testing: Haplotype-based testing and analysis

 Jong-Eun Lee  ;  Ji Ha Choi  ;  Ji Hyun Lee  ;  Min Goo Lee 
 Mutation Research, Vol.573(1~2) : 195-204, 2005 
Journal Title
 Mutation Research 
Issue Date
Amyloid ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Genetic Predisposition to Disease ; Haplotypes* ; Humans ; Inflammatory Bowel Diseases/genetics ; Mutation* ; Polymorphism, Single Nucleotide* ; Prion Proteins ; Prions ; Protein Precursors
Haplotype ; Single nucleotide polymorphism ; Mutation ; Gene–gene interaction ; Cystic fibrosis transmembrane conductance regulator ; Pharmacogenomics
Haplotype-based analysis using high-density single nucleotide polymorphism (SNP) markers have gained increasing attention in evaluating candidate genes in various clinical situations. For example, haplotype information is useful for predicting the severity and prognosis of certain genetic disorders. The intragenic cis-interactions between the common polymorphisms and the pathogenic mutations of prion protein (PRNP) and cystic fibrosis transmembrane conductance regulator (CFTR) genes greatly influence the phenotypes and the disease penetrance of hereditary Creutzfeldt–Jakob disease and cystic fibrosis. Merits of haplotype study are more evident in the fine mapping of complex diseases and in identifying genetic variations that influence individual's response to drugs. Knowledge-based approaches and/or linkage analyses using SNP tagged haplotypes are effective tools in detecting genetic associations. For example, haplotype studies in the inflammatory bowel disease susceptibility loci revealed diverse cis and trans gene–gene interactions, which can affect the clinical outcomes. Although currently, we have very limited knowledge on haplotype–phenotypic characterizations of most genes, these examples demonstrate that increased understanding of the clinically relevant haplotypes will provide better results in the diagnosis and possibly in the treatment of both monogenic and polygenic diseases.
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1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Ji Hyun(이지현)
Choi, Ji Ha(최지하)
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