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[Linkage disequilibrium in the human genome and its exploitation].
- Source :
-
Archives de l'Institut Pasteur de Tunis [Arch Inst Pasteur Tunis] 2005; Vol. 82 (1-4), pp. 9-21. - Publication Year :
- 2005
-
Abstract
- This present review gives an overview on Linkage disequilibrium (LD), its measures and its different utilizations in human genetics studies. In the first part, we provide a detailed and a simplified presentation focusing on the definition of LD, its measures and the major software for its evaluation. Thereafter, we describe and discuss the biological and evolutionary mechanisms which create, remodel, maintain or destroy LD in human population. Consensus has now emerged on the pattern of LD in the genome which has a block-like organization with block of high disequilibrium interrupted by recombination hotspots. However, no standard method exists for the determination of such blocks and, more importantly, for the identification of TagSNP. This would yield inconsistencies between different studies of the same genes, compromising the practical use of TagSNP in association studies. The ACE gene is used to illustrate this. Will it be possible to identify consensus TagSNP that could be used consistently in all populations for testing association of candidate genes in common diseases? What is the part of myth and reality in what is called "individualized medicine"? We conclude that further LD studies are needed to get clear insights into this matter.
- Subjects :
- Case-Control Studies
Evolution, Molecular
Gene Frequency genetics
Genetic Diseases, Inborn diagnosis
Genetic Diseases, Inborn epidemiology
Genetic Diseases, Inborn genetics
Genetics, Population
Genotype
Haplotypes genetics
Humans
Mutation
Pedigree
Polymorphism, Single Nucleotide genetics
Recombination, Genetic genetics
Software
Technology Assessment, Biomedical
Genetic Testing organization & administration
Genetics, Medical organization & administration
Genome, Human genetics
Linkage Disequilibrium genetics
Subjects
Details
- Language :
- French
- ISSN :
- 0020-2509
- Volume :
- 82
- Issue :
- 1-4
- Database :
- MEDLINE
- Journal :
- Archives de l'Institut Pasteur de Tunis
- Publication Type :
- Academic Journal
- Accession number :
- 16929750