Relatively common mutations of the Bloom syndrome gene in the Japanese population

  • Authors:
    • Hideo Kaneko
    • Kouji Isogai
    • Toshiyuki Fukao
    • Eiko Matsui
    • Kimiko Kasahara
    • Akihiro Yachie
    • Hidetoshi Seki
    • Shoichi Koizumi
    • Masami Arai
    • Joji Utunomiya
    • Yoshio Miki
    • Naomi Kondo
  • View Affiliations

  • Published online on: September 1, 2004     https://doi.org/10.3892/ijmm.14.3.439
  • Pages: 439-442
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Abstract

Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous facial telangiectasia, sun sensitivity, infertility, stunted growth and a high predisposition to various types of cancer. Chromosomal abnormalities are hallmarks of this disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are diagnostic features. BLM is the causative gene for BS. We investigated the mutation in the BLM gene in 4 Japanese BS kindreds. Taken together with previously documented mutations, 2 kindreds were homozygous for 631delCAA and 2 were compound heterozygous for 631delCAA. The silent mutation of A1055C (Thr to Thr) was detected in control Japanese individuals. The 6-bp deletion/7-bp insertion at position 2,281, which most Askenazi Jewish BS patients carry, was not detected in 200 Japanese alleles. These results suggest that 631delCAA is a relatively common mutation among the Japanese BS patients.

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September 2004
Volume 14 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Kaneko H, Isogai K, Fukao T, Matsui E, Kasahara K, Yachie A, Seki H, Koizumi S, Arai M, Utunomiya J, Utunomiya J, et al: Relatively common mutations of the Bloom syndrome gene in the Japanese population. Int J Mol Med 14: 439-442, 2004
APA
Kaneko, H., Isogai, K., Fukao, T., Matsui, E., Kasahara, K., Yachie, A. ... Kondo, N. (2004). Relatively common mutations of the Bloom syndrome gene in the Japanese population. International Journal of Molecular Medicine, 14, 439-442. https://doi.org/10.3892/ijmm.14.3.439
MLA
Kaneko, H., Isogai, K., Fukao, T., Matsui, E., Kasahara, K., Yachie, A., Seki, H., Koizumi, S., Arai, M., Utunomiya, J., Miki, Y., Kondo, N."Relatively common mutations of the Bloom syndrome gene in the Japanese population". International Journal of Molecular Medicine 14.3 (2004): 439-442.
Chicago
Kaneko, H., Isogai, K., Fukao, T., Matsui, E., Kasahara, K., Yachie, A., Seki, H., Koizumi, S., Arai, M., Utunomiya, J., Miki, Y., Kondo, N."Relatively common mutations of the Bloom syndrome gene in the Japanese population". International Journal of Molecular Medicine 14, no. 3 (2004): 439-442. https://doi.org/10.3892/ijmm.14.3.439