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著作: Otsuka Susumu/Sakamoto Yumiko/[塩見 春彦]/[板倉 光夫]/Yamamoto Kenji/Matumoto Hideo/Sasaki Tsukasa/Kato Nobumasa/Nanba Eiji/Fragile X carrier screening and FMR1 allele distribution in the Japanese population./[Brain & Development]

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EID
187253
EOID
653863
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2012年8月28日(火) 19:53:13
Operator
大家 隆弘
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[センター長]/[徳島大学.疾患プロテオゲノム研究センター]
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種別 必須 学術論文(審査論文)
言語 必須 英語
招待 推奨
審査 推奨
カテゴリ 推奨
共著種別 推奨
学究種別 推奨
組織 推奨
著者 必須
  1. (英) Otsuka Susumu
    役割 任意
    貢献度 任意
    学籍番号 推奨
  2. (英) Sakamoto Yumiko
    役割 任意
    貢献度 任意
    学籍番号 推奨
  3. 塩見 春彦
    役割 任意
    貢献度 任意
    学籍番号 推奨
  4. 板倉 光夫
    役割 任意
    貢献度 任意
    学籍番号 推奨
  5. (英) Yamamoto Kenji
    役割 任意
    貢献度 任意
    学籍番号 推奨
  6. (英) Matumoto Hideo
    役割 任意
    貢献度 任意
    学籍番号 推奨
  7. (英) Sasaki Tsukasa
    役割 任意
    貢献度 任意
    学籍番号 推奨
  8. (英) Kato Nobumasa
    役割 任意
    貢献度 任意
    学籍番号 推奨
  9. (英) Nanba Eiji
    役割 任意
    貢献度 任意
    学籍番号 推奨
題名 必須

(英) Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

副題 任意
要約 任意

(英) Fragile X syndrome (FXS), which is the most common form of familial mental retardation, is caused by the expansion of the CGG repeat in the FMR1 gene on the X chromosome. Previous studies have suggested that as compared to other populations, Japanese have a lower prevalence of FXS. In addition, in the normal population, there are no carriers who have the premutation allele. We analyzed a total of 946 normal Japanese (576 males and 370 females) and attempted to estimate the frequency of the FMR1 allele. Within this population, we found that 1,155 alleles were in the normal range (less than 40 CGG repeats) and had a modal number of 27 repeats (35.75%). No carriers with premutations (55-200 CGG repeats) were observed in this normal population. We also identified six intermediate-sized alleles (40-54 CGG repeats), with a reported incidence of 1 in 103 males and 1 in 324 females. However, this allele frequency was different from that previously reported for the Japanese population. Since data from previous studies has suggested that FXS might possibly be associated with the genetic mechanism of autism, we also analyzed the length of the CGG repeats in 109 autistic patients. In all cases the CGG repeat numbers were within the normal range (16-36 repeats) and no individuals presented with expanded premutation or intermediate alleles. This finding indicates that the length of the CGG repeat within the FMR1 is unlikely to be responsible for autism in Japanese.

キーワード 推奨
  1. (英) Asian Continental Ancestry Group
  2. (英) Autistic Disorder
  3. (英) Female
  4. (英) Fragile X Mental Retardation Protein
  5. (英) Fragile X Syndrome
  6. (英) Gene Frequency
  7. (英) Genetic Testing
  8. (英) Heterozygote
  9. (英) Humans
  10. (英) Male
  11. (英) Trinucleotide Repeat Expansion
発行所 推奨
誌名 必須 Brain & Development(日本小児神経学会)
(pISSN: 0387-7604, eISSN: 1872-7131)
ISSN 任意 1872-7131
ISSN: 0387-7604 (pISSN: 0387-7604, eISSN: 1872-7131)
Title: Brain & development
Title(ISO): Brain Dev
Publisher: Elsevier B.V.
 (NLM Catalog  (医中誌Web  (Scopus  (CrossRef (Scopus information is found. [need login])
必須 32
必須 2
必須 110 114
都市 任意
年月日 必須 2009年 2月 10日
URL 任意
DOI 任意 10.1016/j.braindev.2008.12.015    (→Scopusで検索)
PMID 任意 19211207    (→Scopusで検索)
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被引用数 任意
指導教員 推奨
備考 任意
  1. (英) Article.Affiliation: Research Center for Bioscience and Technology, Tottori University, Japan.

  2. (英) Article.PublicationTypeList.PublicationType: Journal Article

  3. (英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't