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.
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.
Sabouri
A H
AH
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Sakuragaoka, Kagoshima, Japan.
Saito
M
M
Matsumoto
W
W
Kodama
D
D
Farid
R
R
Izumo
S
S
Usuku
K
K
Osame
M
M
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
D017493:Leukocyte Common Antigens; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1