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Abstracts » Biological sciences

The critical region for Behcet disease in the human major histocompatibility complex is reduced to a 46-kb segment centromeric of HLA-B, by association analysis using refined microsatellite mapping

Article Abstract:

The critical region for Behcet disease in the human major histocompatibility complex (MHC) has been narrowed to a 46-kb segment centromeric of HLA-B (ital). Association analysis for Behcet disease has been carried out on eight polymorphic microsatellite markers over a 900-kb region around the HLA-B (ital) locus of the MICA (ital) gene. The HLA-B51 allele is associated with the disease, which has a frequency of 45%-60% in Asian and Eurasian ethic groups, is an inflammatory disorder that occurs spontaneously, and is often triggered by environmental factors.

Author: Oka, Akira, Tamiya, Gen, Inoko, Hidetoshi, Ota, Masao, Mizuki, Nobuhisa, Katsuyama, Yoshihiko, Shiina, Takashi, Ando, Hitoshi, Kimura, Minoru, Goto, Kaori, Ohno, Shigeaki
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
United States, Japan, Usage, Physiological aspects, Behcet's disease, Behcet's syndrome, Major histocompatibility complex, Chromosome mapping, Genetic disorders

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Genomewide association analysis of human narcolepsy and a new resistance gene

Article Abstract:

A genomewide association study is performed using microsatellite markers in order to discover additional candidate regions for susceptibility or resistance to human narcolepsy. The reporter-gene assays have showed that the marker D2IS0012m in the promoter region and the SNP rs 13046884 in the intron of NLC1-A affected expression levels significantly and hence the NLC-1 is considered to be a new resistance gene for human narcolepsy.

Author: Kawashima, Minae, Oka, Akira, Tamiya, Gen, Hohjoh, Hirohiko, Juji, Takeo, Ebisawa, Takashi, Honda, Yotaka, Inoko, Hidetoshi, Tokunaga, Katsushi
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Gene expression, Genetic research, Narcolepsy, Genetic susceptibility

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Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

Article Abstract:

Various studies are performed to reveal the disease-causative gene of X-linked dystonia-parkinsonism (XDP). The genome sequencing analysis and expression analysis have shown that the reduced neuron-specific expression of the TATA-binding protein-associated factor 1 gene (TAF1) is associated with XDP.

Author: Goto, Satoshi, Makino, Satoshi, Tamiya, Gen, Kaji, Ryuji, Ando, Satoshi, Tomizawa, Maiko, Yasuno, Katsuhito, Matsumoto, Shinnichi, Tabuena, Ma Daisy, Maranon, Elma, Dantes Marita, Lee, Lillian V., Ogasawara, Kazumasa, Tooyama, Ikuo, Akatsu, Hiroyasu, Nishimura, Masataka
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
DNA binding proteins, Parkinsonism, Dopamine receptors, Dystonia, Structure, Report

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Subjects list: Genetic aspects, Research
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