Abstract:
:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manner. In 864 Caucasian unrelated individuals, we describe haplotype-specific LD patterns across the human MHC by the construction of gene-specific allelic haplotypes at 25 loci between HLA-A and Tapasin. Strong and extensive LD is found across both common and rare haplotypes, suggesting that haplotype structure is influenced by factors other than genetic drift, including both selection and differential haplotype recombination. Knowledge of haplotype-specific LD in the HLA may explain the apparent discrepant data from previous studies of global LD, help delineate key areas in mapping HLA-associated diseases and, together with recombination data, provide valuable information about a population's demographic history and the selective pressures operating on it.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KIsubject
Has Abstractpub_date
2003-03-15 00:00:00pages
647-56issue
6eissn
0964-6906issn
1460-2083journal_volume
12pub_type
杂志文章abstract::Cytosolic accumulation of TAR DNA binding protein 43 (TDP-43) is a major neuropathological feature of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the mechanisms involved in TDP-43 accumulation remain largely unknown. Previously, we reported that inhibitors of cyclin-depen...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu578
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章,评审
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2015-11-15 00:00:00
abstract::In the normal diploid mouse embryo, active demethylation of the paternal genome but not of the maternal genome occurs within only a few hours and in a highly coordinated fashion as the zygote proceeds through the first G1 phase. This zygotic demethylation may be necessary to reprogram the sperm genome for somatic deve...
journal_title:Human molecular genetics
pub_type: 杂志文章
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journal_title:Human molecular genetics
pub_type: 杂志文章
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pub_type: 杂志文章,meta分析
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更新日期:2018-06-01 00:00:00
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journal_title:Human molecular genetics
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pub_type: 杂志文章
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更新日期:1994-11-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.4.467
更新日期:2000-03-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2014-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:1993-07-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.7.1041
更新日期:1994-07-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1093/hmg/9.13.1927
更新日期:2000-08-12 00:00:00