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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
Author(s) -
Sabouri A. H.,
Saito M.,
Matsumoto W.,
Kodama D.,
Farid R.,
Izumo S.,
Usuku K.,
Osame M.
Publication year - 2003
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2003.00679.x
Subject(s) - tropical spastic paraparesis , exon , medicine , myelopathy , mutation , population , virology , asymptomatic , point mutation , multiple sclerosis , virus , immunology , genetics , biology , gene , spinal cord , environmental health , psychiatry
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.