Detection kit for charcot marie tooth disease related PMP22 gene copy number variation

Abstract

The invention discloses a detection kit for charcot marie tooth disease related PMP22 gene copy number variation. The detection kit comprises a 10*PCR buffer solution, a 4*GC solution, a PCR primer mixed solution, TaqDNA polymerase, a probe primer mixed solution, a DNA diluent, a 10*Taq connecting buffer solution, Taq ligase, 20m MEDTA, dNTP (2.5mM) and MgCl2 (25mM). The kit and the system for detecting PMP22 gene copy number variation on the basis of a CNVplex-high flux connecting probe amplification technology (HLPA) disclosed by the invention are mainly used for detecting the charcot marietooth disease caused by the PMP22 gene deletion or repeated mutation so as to acquire the correct copy number of each target locus of the PMP22 gene. The detection kit has the advantages of quick detection, high accuracy, high repeatability, high resolution ratio, and the like.

Description

technical field [0001] The invention relates to a gene copy number variation detection kit, in particular to a Charcot-Marie-Tooth disease-related PMP22 gene copy number variation detection kit. Background technique [0002] Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy (HMSN), is a group of the most common peripheral genetic genetic diseases, with an incidence of about 1 / 2500. The inheritance mode of CMT is mainly autosomal dominant inheritance (AD), and autosomal recessive inheritance (AR) and X-linked dominant or recessive inheritance (XD or XR) can also be seen. The main clinical features of CMT are onset in childhood or adolescence, chronic and progressive distal limb weakness, muscle atrophy with weakened or absent tendon reflexes, with or without mild to moderate sensory impairment. Clinically, according to the different electrophysiological and pathological features, it is mainly divided into CMT1 type (demyelinating type) and ...

AI Technical Summary

Problems solved by technology

Although MLPA is very mature in diagnosing gene-specific exon CNVs, there are still some outstanding problems in MLPA

First of all, it has relatively high requirements for the DNA quality of the tested specimens. Common DNA extraction methods cannot meet the experimental requirements. It is necessary to purchase a commercial kit with better quality for extraction, which increases the cost of the experiment. Specimens must use the same DNA extraction method

Images