PMID- 15523649
OWN - NLM
STAT- MEDLINE
DCOM- 20051024
LR  - 20221207
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 24
IP  - 6
DP  - 2004 Dec
TI  - High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in 
      the Caucasian population: implications for haplotype tagging.
PG  - 517-25
AB  - The region spanning the tumor necrosis factor (TNF) cluster in the human major 
      histocompatibility complex (MHC) has been implicated in susceptibility to 
      numerous immunopathological diseases, including type 1 diabetes mellitus and 
      rheumatoid arthritis. However, strong linkage disequilibrium across the MHC has 
      hampered the identification of the precise genes involved. In addition, the 
      observation of "blocks" of DNA in the MHC within which recombination is very 
      rare, limits the resolution that may be obtained by genotyping individual SNPs. 
      Hence a greater understanding of the haplotypes of the block spanning the TNF 
      cluster is necessary. To this end, we genotyped 32 human leukocyte antigen 
      (HLA)-homozygous workshop cell lines and 300 healthy control samples for 19 
      coding and promoter region SNPs spanning 45 kb in the central MHC near the TNF 
      genes. The workshop cell lines defined 11 SNP haplotypes that account for 
      approximately 80% of the haplotypes observed in the 300 control individuals. 
      Using the control individuals, we defined a further six haplotypes that account 
      for an additional 10% of donors. We show that the 17 haplotypes of the "TNF 
      block" can be identified using 15 SNPs.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Allcock, Richard J N
AU  - Allcock RJ
AD  - School of Surgery and Pathology, University of Western Australia, QEII Medical 
      Centre, Nedlands, Australia. rallcock@cyllene.uwa.edu.au
FAU - Windsor, Lydia
AU  - Windsor L
FAU - Gut, Ivo G
AU  - Gut IG
FAU - Kucharzak, Ramon
AU  - Kucharzak R
FAU - Sobre, Laetitia
AU  - Sobre L
FAU - Lechner, Doris
AU  - Lechner D
FAU - Garnier, Jean-Guillaume
AU  - Garnier JG
FAU - Baltic, Svetlana
AU  - Baltic S
FAU - Christiansen, Frank T
AU  - Christiansen FT
FAU - Price, Patricia
AU  - Price P
LA  - eng
SI  - OMIM/191160
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Tumor Necrosis Factors)
RN  - EC 3.6.1.- (DDX39B protein, human)
RN  - EC 3.6.4.13 (DEAD-box RNA Helicases)
RN  - EC 3.6.4.13 (RNA Helicases)
SB  - IM
MH  - Cell Line, Transformed
MH  - DEAD-box RNA Helicases
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - *Major Histocompatibility Complex
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - RNA Helicases/genetics
MH  - Tumor Necrosis Factors/*genetics
MH  - White People/*genetics
EDAT- 2004/11/04 09:00
MHDA- 2005/10/26 09:00
CRDT- 2004/11/04 09:00
PHST- 2004/11/04 09:00 [pubmed]
PHST- 2005/10/26 09:00 [medline]
PHST- 2004/11/04 09:00 [entrez]
AID - 10.1002/humu.20100 [doi]
PST - ppublish
SO  - Hum Mutat. 2004 Dec;24(6):517-25. doi: 10.1002/humu.20100.