应用 GeneScan 方法对一个中国人家族的眼咽型肌营养不良进行基因诊断。
Gene diagnosis of oculopharyngeal muscular dystrophy in a Chinese family by a GeneScan method.
机构信息
School of Life Sciences, Xiamen University, Xiamen, Fujian, China.
出版信息
J Clin Lab Anal. 2010;24(6):422-5. doi: 10.1002/jcla.20423.
Abstract
This study aims to perform gene diagnosis for Chinese family patients with Oculopharyngeal muscular dystrophy (OPMD). Genomic DNAs were extracted from the pedigrees' members. Gene diagnosis was performed for these pedigrees' members by approaches, such as DNA sequencing and GeneScan. Sequence analysis and PABPN1 genotyping showed that the mutated allele in affected members of this family has nine trinucleotide repeats of GCG (GCG)(9), whereas the normal allele contains six trinucleotide repeats of GCG (GCG)(6). The above results suggest that mutated GCG repeats in PABPN1 gene may cause OPMD in this family, and PABPN1 genotyping could be used as a convenient, highly effective, and reliable gene diagnostic test for OPMD patients.
摘要
本研究旨在对中国眼咽型肌营养不良症（OPMD）家系患者进行基因诊断。从家系成员中提取基因组 DNA。通过 DNA 测序和 GeneScan 等方法对这些家系成员进行基因诊断。序列分析和 PABPN1 基因分型显示，该家系中受累成员的突变等位基因含有 9 个三核苷酸重复 GCG（GCG）（9），而正常等位基因含有 6 个三核苷酸重复 GCG（GCG）（6）。上述结果表明，PABPN1 基因中突变的 GCG 重复可能导致该家系发生 OPMD，PABPN1 基因分型可作为 OPMD 患者的一种方便、高效、可靠的基因诊断试验。
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