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目的探讨一考虑诊断眼咽型肌营养不良(oculopharyngeal muscular dystrophy,0PMD)家系的临床及分子生物学特点。方法收集该家系成员的临床资料,并经包括先证者在内的16位家族成员同意,收集其血样进行聚合酶链反应(PCR)基因验证分析。结果该家系成员男性患者起病以眼睑下垂为首发症状,而后开始逐渐出现以发音及吞咽困难为表现的咽部肌群和肢体乏力为表现的四肢近端肌群受累,而女性患者则往往以吞咽困难为首发表现。参与基因检测的家族成员中共发现10位存在多聚腺苷酸结合蛋白核l(PABPN1)基因的(GCG)6重复异常拷贝为(GCG)10,从而导致了丙氨酸的扩增。结论基因诊断及产前诊断是确诊及预防眼咽型肌营养不良的关键,眼睑下垂可能为携带(GCG)10突变男性OPMD患者的首发症状。
Objective To investigate the clinical and molecular characteristics of a pedigree diagnosed as oculopharyngeal muscular dystrophy (0PMD). Methods The clinical data of the pedigree were collected and validated by 16 family members, including probands. Blood samples were collected for polymerase chain reaction (PCR) gene validation analysis. Results The male members of this pedigree had eyelid ptosis as their first symptom and then gradually began to appear in the pharyngeal muscles with dysphagia and dysphagia as well as the proximal muscles of the extremities. However, Dysphagia is the first manifestation. A total of 6 (GCG) 6 repeat copies (GCG) 10 of the 10-member polyprotein binding protein 1 (PABPN1) gene were found in the family members involved in gene testing, resulting in alanine amplification. Conclusions Genetic diagnosis and prenatal diagnosis are the key factors for the diagnosis and prevention of ocular dystrophy. Down ptosis may be the first symptom of OPGD in male with GCG 10 mutation.