title: A C77G point mutation in CD45 exon 4, which is associated with the development of multiple sclerosis and increased susceptibility to HIV-1 infection, is undetectable in Japanese population.
abstract: HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is one outcome of Human T-cell lymphotropic virus type 1 (HTLV-1) infection. It remains unknown why the majority of infected people remain healthy whereas only approximately 2-3% develop disease. Recently, heterozygous state of CD45 exon 4 mutation (C77C wild type and C77G mutant) was reported to be associated with development of multiple sclerosis in German patients and increased susceptibility to HIV-1 infection in the United Kingdom. To investigate whether this mutation is associated with the development of HAM/TSP, we studied a group of 164 HAM/TSP patients and 108 asymptomatic HTLV-1 carriers in Kagoshima (HTLV-1 endemic area in Southern Japan) by using PCR-RFLP and subsequent direct sequencing analysis. All 272 subjects showed homozygosity in the CD45 exon 4, suggesting that this mutation is absent or very rare in Japanese population.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Sakuragaoka, Kagoshima, Japan.
authors.forename: A H
authors.initials: AH
authors.lastname: Sabouri
authors.forename: M
authors.initials: M
authors.lastname: Saito
authors.forename: W
authors.initials: W
authors.lastname: Matsumoto
authors.forename: D
authors.initials: D
authors.lastname: Kodama
authors.forename: R
authors.initials: R
authors.lastname: Farid
authors.forename: S
authors.initials: S
authors.lastname: Izumo
authors.forename: K
authors.initials: K
authors.lastname: Usuku
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D002353:Carrier State; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D015658:HIV Infections / Q000235:genetics* / Q000276:immunology*; D015368:Human T-lymphotropic virus 1; D006801:Humans; D007564:Japan / Q000453:epidemiology; D017493:Leukocyte Common Antigens / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D015493:Paraparesis, Tropical Spastic / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics* / Q000502:physiology*; D012150:Polymorphism, Restriction Fragment Length; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017493:Leukocyte Common Antigens; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1