Köhler J, Röhrig D, Bathke K D, Koch M C
Medizinisches Zentrum für Humangenetik der Philipps-Universität Marburg, Germany.
Clin Genet. 1999 Feb;55(2):88-94. doi: 10.1034/j.1399-0004.1999.550204.x.
Probe p13E-11 (locus D4F104S1) detects two highly homologous polymorphic loci on chromosomes 4q35 and 10q26. Previous reports in the literature have described a correlation of shortened 4q35-specific fragments and facioscapulohumeral muscular dystrophy (FSHD1). We have identified 30 FSHDI families (46 patients) carrying one short 4q35 and one short 10q26 fragment. The clinical data of these patients were compared with those of 47 families (131 patients) showing a single short 4q35 fragment, in order to evaluate a potentially modifying influence of shortened 10q26 fragments on the phenotype. According to our results, the polymorphic locus on 10q26 does not modify the FSHDI phenotype. The normal population (14%) and our FSHDI population (13%) did not significantly differ in the overall frequency of short polymorphic 10q26 fragments. The specificity of the p13E-11/EcoRI-BlnI test for FSHD1 was 100%.
探针p13E - 11（基因座D4F104S1）可检测4号染色体q35区域和10号染色体q26区域上的两个高度同源的多态性位点。文献中先前的报道描述了4号染色体q35区域特异性片段缩短与面肩肱型肌营养不良症（FSHD1）之间的相关性。我们鉴定出30个携带一条短4号染色体q35片段和一条短10号染色体q26片段的FSHD1家系（46例患者）。将这些患者的临床数据与47个携带一条短4号染色体q35片段的家系（131例患者）的临床数据进行比较，以评估缩短的10号染色体q26片段对表型的潜在修饰作用。根据我们的结果，10号染色体q26区域的多态性位点不会改变FSHD1的表型。正常人群（14%）和我们的FSHD1人群（13%）中短多态性10号染色体q26片段的总体频率无显著差异。p13E - 11/EcoRI - BlnI检测对FSHD1的特异性为100%。
