Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy

作者：Lan, Xiaoping; Li, Na; Wan, Hongling; Luo, Lintong; Wu, Yiming; Li, Sanxiang; An, Yu; Wu, Bai-Lin^*

来源：Journal of Genetics and Genomics, 2018, 45(10): 549-552.

DOI：10.1016/j.jgg.2018.06.008

• UNSTABLE CTG REPEAT
• SEQUENCE INTERRUPTIONS
• TYPE-1
• EXPANSIONS
• PHENOTYPE
• MUTATION
• ALLELES

<正>Myotonic dystrophy type 1 (DM1),or Steiner’s disease,is an autosomal dominant disorder caused by the expansion of unstable trinucleotide repeats (CTG) in the 3’ untranslated region of the myotonic dystrophy protein kinase gene (DMPK) (Brook et al.,1992;Mahadevan et al.,1992).The number of CTG repeats observed in normal individuals is in a range of 5-34,while the individuals with 35-49 CTG repeats are usually asymptomatic but at risk of

• 出版日期2018-10-20
• 单位上海交通大学; 复旦大学; 陇东学院; 天水师范学院