Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: New hope for haplotype mapping. | Available online http content 5 2 51 Commentary New hope for haplotype mapping John I Bell John Radcliffe Hospital Oxford UK Corresponding author John Bell e-mail Regius@ Received 1 November 2002 Accepted 20 November 2002 Published 13 January 2003 Arthritis Res Ther 2003 5 51-53 DOI ar621 2003 BioMed Central Ltd Print ISSN 1478-6354 Online ISSN 1478-6362 Abstract The systematic analysis of polymorphisms across large parts of the human genome has begun to provide the first information on haplotypes and the problem of linkage disequilibrium across large genomic regions. These data suggest that significant regions of the gnome show highly conserved haplotypes potentially enhancing the ability to detect disease associations. Keywords evolution genetics haplotypes human leukocyte antigen Introduction Individual risk of developing most major diseases can be largely attributed to the extensive single nucleotide variation that occurs throughout the human genome. The identification of the functional variants that contribute to disease risk and progression however has been difficult particularly for complex diseases where the interplay of genes and environment is most evident. Relatively minor degrees of genetic variation can lead to substantial structural and functional changes-as evidenced by the modest changes that distinguish primate species or that can produce profound disease phenotypes in Mendelian-related traits. Attempts to identify DNA variants that contribute to complex disease through linkage analysis with genome wide markers in families have provided localisation of large genetic effects but few actual disease-mediating polymorphisms. Association strategies including genome wide association provide a theoretically more powerful methodology for identifying disease polymorphisms but also present new methodological and statistical challenges. These have however provided hope that such variants can now be identified. One
