Probe combination for diagnosing fibula amyotrophy, kit and application

A technology of Charcot-Marie-Tooth disease and a kit, which is applied in the direction of recombinant DNA technology, microbial measurement/inspection, DNA/RNA fragments, etc., can solve problems such as missed diagnosis, improve accuracy, improve accurate diagnosis rate, reduce time and The effect of financial burden
CN114277146APending Publication Date: 2022-04-05THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV +1
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
THE THIRD XIANGYA HOSPITAL OF CENT SOUTH UNIV
Publication Date
2022-04-05

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Abstract

The invention discloses a probe combination for diagnosing fibula amyotrophy, a kit and application, and belongs to the technical field of gene detection. Wherein the probe combination comprises at least one probe for targeting at least one gene of PMP22, GJB1, MFN2, MPZ, GDAP1, MORC2, SORD, NEFH, HSPB1, NEFL, PMP2, GLA, PRPS1 and TTR. The invention further discloses a kit containing the probe combination and application of the kit in diagnosis of bone amyotrophy. According to the probe combination or the kit, the accuracy of target gene variation detection can be remarkably improved, accurate auxiliary diagnosis of the fibula amyotrophy is further facilitated, and the probe combination or the kit has huge clinical application value.
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Description

technical field

[0001] The invention belongs to the technical field of gene detection, and in particular relates to a probe combination, a kit and an application for diagnosing Charcot-Marie-Tooth disease. Background technique

[0002] Charcot-marie-tooth disease (CMT) is the most common group of hereditary peripheral neuropathies with high clinical and genetic heterogeneity, and its overall incidence is about 1 / 2500. According to the median motor nerve conduction velocity (MNCV), CMT can be further subdivided into demyelinating (CMT1, MNCV≤38m / s), axonal (CMT2, MNCV>38m / s) and intermediate There are three types (ICMT, 25m / s<MNCV<45m / s). So far, more than 100 genes have been identified to be associated with CMT, among which: PMP22 is the most common gene in CMT type 1, followed by MPZ; MFN2 is the most common gene in CMT type 2 and GJB1 is the most common gene in CMT intermediate type. According to literature reports, PMP22, GJB1, MPZ and MFN2 are the four most co...

Claims

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