Volume 24, Number 158 (8-2017)                   RJMS 2017, 24(158): 0-0 | Back to browse issues page

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The study of Mutation in Exon 8 of CLCN1 Gene in Iranian Non-dystrophic Myotonia Patients. RJMS. 2017; 24 (158)
URL: http://rjms.iums.ac.ir/article-1-3046-en.html

Abstract:   (480 Views)

Background: Non-dystrophy myotonias (NDMs) have similar clinical signs of muscle weakness and congenital myotoniais typical example. This disease is caused by mutations in CLCN1 gene.

CLCN1gene has 23 exons and exon 8 is hotspot. Mutations in skeletal muscle cholorid channel gene are associated with a group of clinically overlapping diseases by alterations in the excitability of the sarcolema. The purpose of the study is to identify hotspot exon 8 mutations in Iranian non-dystrophic myotonia patients.

Material & method: In this study, twenty eight Iranian sporadic patients with non-dystrophic myotonia analyzed for the mutation scanning in exon 8 of CLCN1 gene by PCR-SSCP. DNA fragments showing abnormal banding patterns were sequenced for identification of exact mutations.

Result: we don’t find any mutation in exon 8 of CLCN1 gene.

Discussion: Our study indicates that the CLCN1 gene doesn't any mutation in Iranian non-dystrophic myotonia patients, but we suggest follow-up these studies for finding the direct molecular relation of this gene with this disorder.

Type of Study: Research | Subject: Genetic

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