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Haplotype analyses with the human leucocyte antigen and tumour necrosis factor‐alpha genes in narcolepsy families
Author(s) -
Hohjoh Hirohiko,
Terada Natsuko,
Miki Tetsuro,
Honda Yutaka,
Tokunaga Katsushi
Publication year - 2001
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1046/j.1440-1819.2001.00782.x
Subject(s) - narcolepsy , haplotype , tumor necrosis factor alpha , human leukocyte antigen , genetics , gene , immunology , biology , allele , antigen , medicine , psychiatry , neurology
Our previous study suggested that the tumour necrosis factor‐alpha gene with thymine residue at position –857 in its promoter region [ TNF‐ α (–857T) ] could be associated with human narcolepsy independently of a strong association of the human leucocyte antigen (HLA)‐ DRB1 * 1501 with the disorder. To understand the relationship of DRB1 * 1501 with TNF‐ α (–857T) in narcoleptic patients, we investigated 28 members of four Japanese narcolepsy families and determined the haplotypes with the HLA‐B , TNF‐ α (–857C/T) and HLA‐DRB1 in the members. The resultant haplotypes indicated that not only the DRB1 * 1501‐TNF‐ α (–857C) haplotype but also the DRB1 * 1501‐TNF‐ α (–857T) haplotype, which is rare in healthy individuals and may have a strong predisposition to the disorder, were present in the affected members. From the chromosomal recombination observed in a few members, it is possible that chromosomal recombination could play a role in the generation of the rare DRB1 * 1501‐TNF‐ α (–857T) haplotype.

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