Genetic Analysis of Werner Syndrome in a Family.
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- Morishima Atsuyuki
- Department of Geriatric Medicine, Osaka University Medical School
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- Mitsuda Noriaki
- Department of Geriatric Medicine, Osaka University Medical School
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- Nakura Jun
- Department of Geriatric Medicine, Osaka University Medical School
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- Kamino Kouzin
- Department of Geriatric Medicine, Osaka University Medical School
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- Sato Naoyuki
- Department of Geriatric Medicine, Osaka University Medical School
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- Miki Tetsuro
- Department of Geriatric Medicine, Osaka University Medical School
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- Ogihara Toshio
- Department of Geriatric Medicine, Osaka University Medical School
Bibliographic Information
- Other Title
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- Werner症候群の一家系における遺伝子解析
- Werner ショウコウグン ノ イチカケイ ニ オケル イデンシ カイセキ
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Abstract
Werner syndrome (WRN) is a rare autosomal recessive disorder, one of the progeroid syndromes, and is characterized by features of premature aging. The incidence of WRN in the Japanese population, 1 in 200, 000, is higher than than that in the Caucasian population. The genetic defect of WRN is unknown. But genetic linkage to several markers on the short arm of chromosome 8 has been reported recently. Here, we studied one family with WRN in which an affected individual had a papillary thyroid carcinoma and myelodysplastic syndrome. Using 4 microsatellites closely located to the WRN locus: D8S360, D8S1055, D8S339 and ANK1, we analyzed the genotypes of this patient, her three siblings and her parents, who were first cousins. The mutative haplotype, identified through the generations in pedigree, helps detect a carrier or a presymptomatic patient. The eldest sister inherited two normal haplotypes, but the second sister inherited one mutative haplotype. There was no difference in clinical signs and symptoms between these sisters. when the WRN gene is isolated, it will help us understand the mechanism of aging.
Journal
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- Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
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Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics 32 (12), 817-821, 1995
The Japan Geriatrics Society
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Details 詳細情報について
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- CRID
- 1390001205020421248
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- NII Article ID
- 130003652099
- 10009409490
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- NII Book ID
- AN00199010
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- NDL BIB ID
- 3927529
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- ISSN
- 03009173
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- PubMed
- 8865743
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- Abstract License Flag
- Disallowed