论文摘要
目的研究强直性肌营养不良（DM）的临床特征,探讨强直性肌营养不良的基因诊断方法。方法总结2008-2011年在我科临床上诊断为强直性肌营养不良的5位患者的临床特征;取5位患者及家系内部分正常人的血样,提取基因组DNA,根据合成的DM1、DM2的引物,进行聚合酶链反应（PCR）,电泳后回收条带,进行基因测序,检测CTG及CCTG重复序列次数,与正常人CTG及CCTG重复序列对比。结果在临床诊断为强直性肌营养不良的5个患者中,5位患者的CTG拷贝数均小于37次,且CCTG拷贝数均小于27次;未发现存在CTG或CCTG重复序列异常扩增的患者。结论强直性肌营养不良为常染色体显性遗传病,临床表现为肌强直、肌无力和肌萎缩,常伴有白内障、心律失常、糖尿病、秃发、多汗、性功能障碍和智力减退等多系统受累的表现。基因诊断是一种准确的诊断方法和标准,DM1及DM2患者行CTG及CCTG重复序列数目的检测对于基因诊断和症状前诊断是一种十分有效的方法。本次试验所研究的5位患者,CTG及CCTG重复序列均未见异常扩增,推测可能存在未发现的DM的致病位点（DM3）。
论文目录
相关论文文献
- [1].Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?[J]. Neural Regeneration Research 2016(09)
- [2].A recognition survey of granular corneal dystrophy type 2 genetic detection in China[J]. International Journal of Ophthalmology 2020(12)
- [3].Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy[J]. Journal of Genetics and Genomics 2018(10)
- [4].Severe dystrophy in DiGeorge syndrome[J]. World Journal of Gastroenterology 2009(11)
- [5].Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy[J]. Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2013(06)
- [6].Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy[J]. Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011(04)
- [7].TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy[J]. International Journal of Ophthalmology(English Edition) 2011(03)
- [8].Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients[J]. International Journal of Ophthalmology 2016(02)
- [9].Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy[J]. International Journal of Ophthalmology(English Edition) 2011(03)
- [10].Long term follow-up of a family with GUCY2D dominant cone dystrophy[J]. International Journal of Ophthalmology 2018(12)
- [11].Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy[J]. International Journal of Ophthalmology 2017(03)
- [12].脊髓小脑共济失调及强直性肌营养不良症易感基因突变位点的研究进展[J]. 临床检验杂志 2020(03)
- [13].Congenital and childhood myotonic dystrophy:Current aspects of disease and future directions[J]. World Journal of Clinical Pediatrics 2015(04)
- [14].Cystic dystrophy of the duodenal wall is not always associated with chronic pancreatitis[J]. World Journal of Gastroenterology 2011(39)
- [15].Multiple excimer laser phototherapeutic keratectomies for Avellino corneal dystrophy: a case report[J]. International Journal of Ophthalmology 2020(05)
- [16].Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients[J]. International Journal of Ophthalmology 2015(03)
- [17].三核苷酸重复序列的不稳定性在1型强直性肌营养不良中的作用[J]. 中风与神经疾病杂志 2020(08)
- [18].Adipose-derived stem cells enhance myogenic differentiation in the mdx mouse model of muscular dystrophy via paracrine signaling[J]. Neural Regeneration Research 2016(10)
- [19].Dominant cystoid macular dystrophy associated with mutations in the RP1L1 gene[J]. International Journal of Ophthalmology 2019(12)
- [20].面肩肱型肌营养不良症的分子机制和治疗方法研究进展[J]. 生命的化学 2020(02)
- [21].Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI[J]. International Journal of Ophthalmology(English Edition) 2013(04)
- [22].科学家用抗转录疗法治愈假肥大型肌营养不良症[J]. 生物医学工程与临床 2009(03)
- [23].Natural products,PGC-1α,and Duchenne muscular dystrophy[J]. Acta Pharmaceutica Sinica B 2020(05)
- [24].Phacoemulsification in a rare case of keratoconus with Fuch's endothelial corneal dystrophy[J]. International Journal of Ophthalmology 2015(06)
- [25].Limb-girdle muscular dystrophy subtypes First-reported cohort from northeastern China[J]. Neural Regeneration Research 2013(20)
- [26].Recurrent hypotension induced by sacubitril/valsartan in cardiomyopathy secondary to Duchenne muscular dystrophy: A case report[J]. World Journal of Clinical Cases 2019(23)
- [27].Cardiomyopathy in becker muscular dystrophy:Overview[J]. World Journal of Cardiology 2016(06)
- [28].Partial least squares based identification of Duchenne muscular dystrophy specific genes#[J]. Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2013(11)
- [29].Stem cell transplantation for treating Duchenne muscular dystrophy A Web of Science-based literature analysis[J]. Neural Regeneration Research 2012(22)
- [30].A 17-year-old Male with Duchenne muscular dystrophy complicated with dilated cardiomyopathy and large left ventricular mural thrombosis[J]. South China Journal of Cardiology 2011(04)
标签：强直性肌营养不良论文; 常染色体显性遗传论文; 基因诊断论文; 或重复序列论文;