Skeletal Muscle Chloride Channel Gene Mutant and Its Application

Abstract

The invention relates to a separated nucleic acid of encoded skeletal muscle chloride ion channel mutants, an isolated polypeptide, a method for screening a myotonia congenital disease susceptible biological sample, a system for screening a myotonia congenital disease susceptible biological sample and a kit for screening a myotonia congenital disease susceptible biological sample. Specifically, the separated nucleic acid of encoded skeletal muscle chloride ion channel mutants, compared with the SEQ ID NO:1, has at least one mutation selected from the following: c.2655_2656insC, c.1616C>T, c.2057_2058delAC and c.313C>T. By detecting the existence of the new mutants in the biological sample, whether the biological sample is susceptible to a myotonia congenital disease can be effectively detected.

Description

technical field

[0001] The invention relates to a skeletal muscle chloride ion channel gene mutant and application thereof. Specifically, the present invention relates to isolated nucleic acids encoding skeletal muscle chloride ion channel mutants, isolated polypeptides, methods for screening biological samples susceptible to congenital myotonic diseases, and systems for screening biological samples susceptible to congenital myotonic diseases And a kit for screening biological samples for susceptibility to myotonia congenita. Background technique

[0002] Myotonia congenital (MC) is a hereditary myopathy with skeletal muscle stiffness and hypertrophy as the main clinical manifestations. Most of them develop at birth or in early childhood, and a few have onset in adolescence. The incidence rate is 0.3-0.6 / 100,000, that is, there are about 3,000-6,000 MC patients in China. According to different genetic patterns, MC can be divided into Thomsen disease (autosomal dominant inh...

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