Genetic fixity in the human major histocompatibility complex and block size diversity in the class I region including HLA-E
| Autor: | Zaheed Husain, T. Romero, Chester A. Alper, Jonathan S. Duke-Cohan, Dolores A. Fici, Zuheir L. Awdeh, Lama El-Dahdah, Joaquín Zúñiga, Viviana Romero, Charles E. Larsen, Dennis R. Alford, Ingrid Almeciga, Edward A. Fox, Edmond J. Yunis, Olga P. Clavijo |
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| Jazyk: | angličtina |
| Předmět: |
Linkage disequilibrium
lcsh:QH426-470 Population Genes MHC Class I Single-nucleotide polymorphism Human leukocyte antigen Polymorphism Single Nucleotide Linkage Disequilibrium Cell Line 03 medical and health sciences 0302 clinical medicine HLA-E Gene Frequency HLA Antigens MHC class I Genetics Humans Genetic Predisposition to Disease Genetics(clinical) education Allele frequency Genetics (clinical) Alleles 030304 developmental biology 0303 health sciences education.field_of_study biology Histocompatibility Antigens Class I Chromosome Mapping Genetic Variation lcsh:Genetics Haplotypes Evolutionary biology biology.protein Chromosomes Human Pair 6 030215 immunology SNP array Research Article |
| Zdroj: | BMC Genetics BMC Genetics, Vol 8, Iss 1, p 14 (2007) |
| ISSN: | 1471-2156 |
| DOI: | 10.1186/1471-2156-8-14 |
| Popis: | Background The definition of human MHC class I haplotypes through association of HLA-A, HLA-Cw and HLA-B has been used to analyze ethnicity, population migrations and disease association. Results Here, we present HLA-E allele haplotype association and population linkage disequilibrium (LD) analysis within the ~1.3 Mb bounded by HLA-B/Cw and HLA-A to increase the resolution of identified class I haplotypes. Through local breakdown of LD, we inferred ancestral recombination points both upstream and downstream of HLA-E contributing to alternative block structures within previously identified haplotypes. Through single nucleotide polymorphism (SNP) analysis of the MHC region, we also confirmed the essential genetic fixity, previously inferred by MHC allele analysis, of three conserved extended haplotypes (CEHs), and we demonstrated that commercially-available SNP analysis can be used in the MHC to help define CEHs and CEH fragments. Conclusion We conclude that to generate high-resolution maps for relating MHC haplotypes to disease susceptibility, both SNP and MHC allele analysis must be conducted as complementary techniques. |
| Databáze: | OpenAIRE |
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