1.Analysis of 12 patients with novel mutations of Dystrophin gene.
Xiaoxin XU ; Yang LIU ; Yuchun PAN ; Zhiyong XU ; Qin WANG ; Jiangsheng XIE
Chinese Journal of Medical Genetics 2017;34(6):802-805
OBJECTIVETo study the characteristics, location, and amino acid changes of novel mutations of the Dystrophin gene.
METHODSTwelve patients in whom no deletion or duplication of the Dystrophin gene was detected were analyzed with next-generation sequencing. Fifty healthy adult males were recruited as the controls.
RESULTSAll patients were detected with mutations of the Dystrophin gene, which included c.33C>G, c.583C>T, c.1333C>T, c.2593C>T, c.5731A>T, c.7288G>T, c.2803+1G>T, c.10034G>A, c.4289A>G, c.1905_906delAG, c.5017delC, c.5768_5771delAAGA, and c.6261_6262insA. No similar mutations were found among the controls.
CONCLUSIONOur data has enriched the mutation spectrum of the Dystrophin gene and may provide an important basis for genetic diagnosis.
Child ; Child, Preschool ; Dystrophin ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation
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