TY - JOUR
T1 - Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients
T2 - absence of the common Jewish 84GG and 1226G mutations
AU - Ida, Hiroyuki
AU - Iwasawa, Kyoko
AU - Kawame, Hiroshi
AU - Rennert, Owen M.
AU - Maekawa, Kihei
AU - Eto, Yoshikatsu
PY - 1995/6/1
Y1 - 1995/6/1
N2 - The prevalence of seven different mutations (84GG, IVS2+1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients of which 20 were type I, 6 were type II, and 6 were (type III). These mutations constitute 95% of the mutations observed in Jewish patients with Gaucher disease and 75% of the mutations in non-Jews (European). The most frequent mutation, 1448C (L444P), accounted for 26 alleles (40.6%); the second most prevalent mutation was 754A (F213I), accounting for 7 alleles (10.9%); 27 alleles (42.2%) were unidentified. To data, neither the 1226G (N370S) nor 84GG mutations have been identified in the Japanese population though these alleles account for approximately 70% and 10% of mutations in the Jewish population. These data suggest that mutant alleles identified from the Japanese population are distinct from those observed in Jewish and non-Jewish (European) patients with Gaucher disease.
AB - The prevalence of seven different mutations (84GG, IVS2+1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients of which 20 were type I, 6 were type II, and 6 were (type III). These mutations constitute 95% of the mutations observed in Jewish patients with Gaucher disease and 75% of the mutations in non-Jews (European). The most frequent mutation, 1448C (L444P), accounted for 26 alleles (40.6%); the second most prevalent mutation was 754A (F213I), accounting for 7 alleles (10.9%); 27 alleles (42.2%) were unidentified. To data, neither the 1226G (N370S) nor 84GG mutations have been identified in the Japanese population though these alleles account for approximately 70% and 10% of mutations in the Jewish population. These data suggest that mutant alleles identified from the Japanese population are distinct from those observed in Jewish and non-Jewish (European) patients with Gaucher disease.
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U2 - 10.1007/BF00209497
DO - 10.1007/BF00209497
M3 - Article
C2 - 7789963
AN - SCOPUS:0029054529
VL - 95
SP - 717
EP - 720
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 6
ER -