The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter
The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter
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4q35 上的 FSHD 连锁位点 D4F104S1 (p13E-11) 在 10qter 上有一个同源物
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发表时间：
1995
期刊：
影响因子：
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通讯作者：
R. Frants
中科院分区：
文献类型：
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作者：
E. Bakker;C. Wijmenga;R. Vossen;G. Padberg;J. Hewitt;M. V. D. van der Wielen;K. Rasmussen;R. Frants
最近发现，面肩肩周性肌营养不良症(FSHD)与使用探针p13E-11(D4F104S1)可检测到的缺失有关。虽然这些缺失存在于大的、高度多态的限制性片段(20-300kb)中，但“突变”片段通常短于28kb，并且可以常规地使用常规的琼脂糖凝胶电泳法进行检测。然而，等位基因的完全可视化需要脉冲场凝胶电泳(PFGE)。家系研究表明，p13E-11在这个大小范围内检测到两个非等位基因，其中只有一个来自染色体4q35。通过连锁分析，我们将另一个p13E-11基因座定位于染色体10qter。知道这两个基因座的位置可以提高诊断的可靠性，因为可以通过单倍型确定“小”EcoRI片段的确切来源。由于FSHD表现出遗传异质性，该10qter基因座成为第二个FSHD基因座的候选基因。然而，对一个大的4号染色体非连锁FSHD家族的分析并没有提供染色体10qter上连锁的证据。©1995 John Wiley&Sons，Inc.
Facioscapulohumeral muscular dystrophy (FSHD) has recently been shown to be associated with deletions that are detectable using probe p13E‐11 (D4F104S1). Although these deletions reside within large, highly polymorphic restriction fragments (20–300 kb), the “mutant” fragment is usually shorter than 28 kb and can routinely be detected using conventional agarose gel electrophoresis. Yet, the complete visualization of the alleles requires pulsed‐field gel electrophoresis (PFGE). Family studies showed that p13E‐11 detects two nonallelic loci in this size range, only one of which originates from chromosome 4q35. We have assigned the other p13E‐11 locus to chromosome 10qter by linkage analysis in CEPH pedigrees. Knowing the location of both loci improves the diagnostic reliability, as the exact origin of “small” EcoRI fragments can be determined by haplotyping. Since FSHD shows genetic heterogeneity, this 10qter locus became an interesting candidate to be the second FSHD locus. However, analysis of a large chromosome 4‐unlinked FSHD family did not provide evidence for linkage on chromosome 10qter. © 1995 John Wiley & Sons, Inc.