Analysis of helicase gene mutations in Japanese Werner’s syndrome patients (original) (raw)

Abstract

The profile of helicase gene mutations was studied in 89 Japanese Werner’s syndrome (WRN) patients by examining the previously described mutations 1– 4 as well as a new mutation found during this study, designated mutation 5. Of 178 chromosomes (89 patients), 89 chromosomes (50%) had mutation 4, 11 (6.2%) chromosomes had mutation 1, and two chromosomes (1.1%) contained mutation 5. Mutations 2 and 3 were not observed in this patient population. The remaining 76 (42.7%) chromosomes had none of these mutations. A significant fraction of all patients (22 total patients, 24.7%) appear to be compound heterozygotes, including those carrying mutations of both types 1 and 4. The genotype analysis of the markers surrounding the WRN helicase gene strongly suggests that most of the chromosomes carrying either mutation 1 or 4 were derived from two single founders.

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Authors and Affiliations

  1. Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, 2-8-1, Minami-Otsuka, Toshima-ku Tokyo 170, Japan, , , , , , JP
    Makaoto Goto
  2. AGENE Research Institute, 200 Kajiwara, Kamakura, Kanagawa, 247 Japan Fax: +81 467-48-6595, , , , , , JP
    Osamu Imamura, Junro Kuromitsu, Takehisa Matsumoto, Yukako Yamabe, Yoshiki Tokutake, Noriyuki Suzuki, Minoru Sugawara, Masanobu Sugimoto & Y. Furuichi
  3. Mercator Genetics Inc., 4040 Campbell Avenue, Menlo Park, CA 94025, USA, , , , , , US
    Brian Mason & Dennis Drayna

Authors

  1. Makaoto Goto
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  2. Osamu Imamura
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  3. Junro Kuromitsu
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  4. Takehisa Matsumoto
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  5. Yukako Yamabe
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  6. Yoshiki Tokutake
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  7. Noriyuki Suzuki
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  8. Brian Mason
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  9. Dennis Drayna
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  10. Minoru Sugawara
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  11. Masanobu Sugimoto
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  12. Y. Furuichi
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Received: 25 July 1996 / Revised: 20 September 1996

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Goto, M., Imamura, O., Kuromitsu, J. et al. Analysis of helicase gene mutations in Japanese Werner’s syndrome patients.Hum Genet 99, 191–193 (1997). https://doi.org/10.1007/s004390050336

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