Clinical and molceulcar analyses of facioscpubhumeral muscular dystrophy

面阴肱型肌营养不良症的临床及分子分析

基本信息

项目摘要

Facioscapulohumeral muscular dystrophy(FSHD) is a common muscular disorder with autosomal dominant inheritance. Most of the patients have a deletion of numbers of D4Z4 repeats on chromosome 4q35.Somatic/germline mosaicism of the D4Z4 repeated region is suggested to cause de novo patients with FSHD in the next generation. We performed southern blot analysis on the FSHD patients and their parents, and revealed that about 20% of the parents were somatic mosaic. There was no difference between the ratio of the cells with deleted allele and the age at onset/clinical severity. Surprisingly, nearly a half of the parents with a deleted allele showed no clinical symptoms, which suggest much more low penetration of this disease than previously thought (Goto et al.,2004).Clinical features of FSHD are quite variable even within a family. We analyzed in detail on 40 patients with 4q35-unlinked FSHD, based on our original clinical database for FSHD. We reported that FSHD contains clinically and genetically variable disorders, and other diseases such as Becker muscular dystrophy could show quite similar clinical features to FSHD (Yamanaka et al.,2004).For the several reasons, genetic diagnosis of FSHD using southern blotting is quite complicate, and to develop a simple method is needed. We developed a new method for the molecular diagnosis of FSHD by using long PCR method. We confirmed that 95% of 4q35-linked FSHD patients can be diagnosed to detect a PCR product corresponding to the number of D4Z4 (paper submitted).
面肩肱型肌营养不良症(FSHD)是一种常见的常染色体显性遗传的肌肉疾病。大多数患者存在染色体4 q35上D4 Z4重复序列的缺失。D4 Z4重复序列的体细胞/胚系嵌合体可能导致下一代FSHD患者的发生。我们对FSHD患者及其父母进行了Southern印迹分析,发现约20%的父母是体细胞嵌合体。等位基因缺失的细胞比例与发病年龄/临床严重程度无差异。令人惊讶的是,近一半的等位基因缺失的父母没有表现出临床症状,这表明这种疾病的渗透率比以前认为的要低得多(后藤等人,2004). FSHD的临床特征即使在一个家庭中也是相当可变的。我们详细分析了40例4 q35-unlinked FSHD患者,基于我们最初的FSHD临床数据库。我们报道了FSHD包含临床和遗传上可变的病症,并且其他疾病如贝克尔肌营养不良症可以显示出与FSHD非常相似的临床特征(Yamanaka等人,2004).由于这些原因,使用Southern印迹法进行FSHD的遗传诊断相当复杂,需要开发一种简单的方法。我们建立了一种新的FSHD分子诊断方法-长链PCR法。我们证实,95%的4 q35连锁FSHD患者可以通过检测对应于D4 Z4数量的PCR产物来诊断。

项目成果

期刊论文数量(38)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
FSHD-like patients without 4q35 deletion.
没有 4q35 缺失的 FSHD 样患者。
  • DOI:
  • 发表时间:
    2004
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Yamanaka G;et al.
  • 通讯作者:
    et al.
Yamanaka et al.: "FSHD-like patients without 4q35 deletion"J Neurol Sci. 219. 89-93 (2004)
Yamanaka 等人:“没有 4q35 缺失的 FSHD 样患者”J Neurol Sci。
  • DOI:
  • 发表时间:
  • 期刊:
  • 影响因子:
    0
  • 作者:
  • 通讯作者:
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
日本先天性肌营养不良症,伴有 α-肌营养不良聚糖糖基化缺陷。
  • DOI:
  • 发表时间:
    2005
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Matsumoto H;Hayashi YK;Kim DS;Ogawa M;Murakami T;Noguchi S;et al.
  • 通讯作者:
    et al.
Goto et al.: "Very low penetrance in 85 Japanese hamilies with facioscapulohumeral muscular dystrophy 1A"J Med Genet. 41. e-12 (2004)
Goto 等人:“85 名患有面肩肱型肌营养不良症 1A 的日本家庭的外显率非常低”J Med Genet。
  • DOI:
  • 发表时间:
  • 期刊:
  • 影响因子:
    0
  • 作者:
  • 通讯作者:
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A
  • DOI:
    10.1136/jmg.2003.008755
  • 发表时间:
    2004-01-01
  • 期刊:
  • 影响因子:
    4
  • 作者:
    Goto, K;Nishino, I;Hayashi, YK
  • 通讯作者:
    Hayashi, YK
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HAYASHI Yukiko其他文献

HAYASHI Yukiko的其他文献

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{{ truncateString('HAYASHI Yukiko', 18)}}的其他基金

To elucidate pathomechanisms of myopathies associated with nuclear envelopathy
阐明与核包膜病相关的肌病的病理机制
  • 批准号:
    24390227
  • 财政年份:
    2012
  • 资助金额:
    $ 2.24万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Epigenomics and muscular dystrophy
表观基因组学和肌营养不良症
  • 批准号:
    24659437
  • 财政年份:
    2012
  • 资助金额:
    $ 2.24万
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
Clinical and molecular studies of Emery-Dreifuss muscular dystrophy
Emery-Dreifuss 肌营养不良症的临床和分子研究
  • 批准号:
    18390265
  • 财政年份:
    2006
  • 资助金额:
    $ 2.24万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Basic and clinical research for perioperative management of braid-death donor and heart transplanted recipient
辫子死亡供者与心脏移植受者围手术期处理的基础与临床研究
  • 批准号:
    13470320
  • 财政年份:
    2001
  • 资助金额:
    $ 2.24万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Studies on the function and the regulation of expression of platelet membrane protein GPIV (CD36)
血小板膜蛋白GPIV(CD36)的功能及表达调控研究
  • 批准号:
    09672346
  • 财政年份:
    1997
  • 资助金额:
    $ 2.24万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Study of the Edict on Mowning
割敕令研究
  • 批准号:
    07620012
  • 财政年份:
    1995
  • 资助金额:
    $ 2.24万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)

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