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目的研究眼咽肌营养不良(ocu lopharyngeal muscu lar dystrophy,OPMD)的遗传学和病理形态学表现。方法应用透射电镜技术对6例患者提上睑肌进行超微结构观察和分析,并采用聚合酶链反应(PCR)产物直接测序法对来自3个家系的OPMD患者11例及其亲属共27名外周血进行检测。结果4例患者眼肌活检标本于电镜下可观察到特异性核内包涵体(intranuc lear inc lusions,INIs),在细胞核内出现率分别为18%、20%、34%及40%。而9例患者基因中存在(GCG)6重复序列拷贝数异常(GCG)8、(GCG)10,亲属中未发病者均未见重复序列的异常扩增。结论OPMD患者受累眼肌活组织检查于电镜下可见INIs,并且INIs出现比率与异常扩增数目成正比。OPMD患者存在(GCG)6重复序列的异常扩增,并且发病年龄与异常扩增数目成反比。
Objective To study the genetic and histopathological features of ocu lopharyngeal muscu lar dystrophy (OPMD). Methods Six cases of levator muscle were observed and analyzed by transmission electron microscopy, and 11 cases of OPMD patients and their relatives from 3 pedigrees were sequenced by polymerase chain reaction (PCR) Peripheral blood is tested. Results Four cases of intraocular lens biopsy specimens showed specific nuclear inclusions (INIs) under electron microscopy. The intranuclear inclusions were observed in 18%, 20%, 34% and 40% of the cases respectively. However, GCG 6 (GCG) 8 (GCG) 10 was found in all the 9 patients. No abnormal amplification of the repeat was found in all the relatives. Conclusion OPGD patients with ocular muscle biopsy under the electron microscope can be seen INIs, and the occurrence of INIs rate is proportional to the number of abnormal amplification. Patients with OPMD have abnormal amplification of (GCG) 6 repeats, and the age of onset is inversely proportional to the number of abnormal amplification.