2型强直性肌营养不良症（DM2）中（CCTG）n突变的分子诊断和验证新方法。
New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).
作者信息
Sallinen R, Vihola A, Bachinski L L, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B
机构信息
Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M. D. Anderson Cancer Center, Houston, TX, USA.
出版信息
Neuromuscul Disord. 2004 Apr;14(4):274-83. doi: 10.1016/j.nmd.2004.01.002.
Myotonic dystrophy types 1 and 2 are autosomal dominant, multisystemic disorders with many similarities in their clinical manifestations. Myotonic dystrophy type 1 is caused by a (CTG)n expansion in the 3' untranslated region of the DMPK gene in 19q13.3 and myotonic dystrophy type 2 by a (CCTG)n expansion in intron 1 of ZNF9 in 3q21.3. However, the clinical diagnosis of myotonic dystrophy type 2 is more complex than that of myotonic dystrophy type 1, and conventional molecular genetic methods used for diagnosing myotonic dystrophy type 1 are insufficient for myotonic dystrophy type 2. Herein we describe two in situ hybridization protocols for the myotonic dystrophy type 2 mutation detection. Chromogenic in situ hybridization was used to detect both the genomic expansion and the mutant transcripts in muscle biopsy sections. Chromogenic in situ hybridization can be used in routine myotonic dystrophy type 2 diagnostics. Fluorescence in situ hybridization on extended DNA fibers was used to directly visualize the myotonic dystrophy type 2 mutation and to estimate the repeat expansion sizes.
1型和2型强直性肌营养不良是常染色体显性遗传的多系统疾病，临床表现有许多相似之处。1型强直性肌营养不良是由位于19q13.3的DMPK基因3'非翻译区的(CTG)n扩增引起的，而2型强直性肌营养不良是由位于3q21.3的ZNF9基因第1内含子中的(CCTG)n扩增引起的。然而，2型强直性肌营养不良的临床诊断比1型更复杂，用于诊断1型强直性肌营养不良的传统分子遗传学方法不足以诊断2型强直性肌营养不良。在此，我们描述了两种用于检测2型强直性肌营养不良突变的原位杂交方案。显色原位杂交用于检测肌肉活检切片中的基因组扩增和突变转录本。显色原位杂交可用于2型强直性肌营养不良的常规诊断。在延伸的DNA纤维上进行荧光原位杂交，用于直接观察2型强直性肌营养不良突变并估计重复扩增大小。
Zotero 插件