Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

Hiroyuki Ida, Kyoko Iwasawa, Hiroshi Kawame, Owen M. Rennert, Kihei Maekawa, Yoshikatsu Eto

研究成果: Article

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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.

元の言語English
ページ(範囲)717-720
ページ数4
ジャーナルHuman Genetics
95
発行部数6
DOI
出版物ステータスPublished - 1995 6 1
外部発表Yes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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