Primer, probe composition and kit for detecting exon copy number variation of human DMD gene

Abstract

The invention belongs to the technical field of biological detection, and discloses a primer, a probe composition and a kit for detecting exon copy number variation of a human DMD gene. According to the kit, through a real-time fluorescent PCR technology, a highly conserved region of a DMD gene 53 exon gene coding region is taken as a target region, a corresponding specific primer probe is designed, a CFTR gene is taken as a reference gene, a false negative result possibly occurring in a PCR reaction process is monitored, whether a DMD patient has 53 exon copy number variation or not is rapidly detected, thereby playing an auxiliary role in diagnosis of a doctor on a DMD patient, and also providing scientific guidance data for the doctor in the aspect of medication. In the application process, the requirement for detection equipment is low, operation is easy, detection can be completed on a machine only by adding a sample DNA, an exon reaction liquid and a PCR premixed liquid, the requirement for skills of operators is low, and sample confusion can be effectively prevented. The kit has the advantages of good reliability, simple operation, low equipment requirement and low reagent cost.

Description

technical field [0001] The invention belongs to the technical field of biological detection, and in particular relates to a primer and probe composition and a kit for detecting the variation of exon copy number of human DMD gene. Background technique [0002] Duchenne / Beckman muscμLar dystrophy (DMD / BMD) is an X-linked recessive genetic disease characterized by progressive muscle weakness and muscle atrophy caused by DMD gene mutations leading to dystrophin protein deficiency Hereditary Muscle Disease. Its clinical features include: muscle cramps, myalgia, quadriceps myopathy, asymptomatic hypercreatine kinaseemia, X-linked dilated cardiomyopathy, etc. [0003] DMD is fully penetrant in males and is characterized by progressive, symmetrical weakness that is more proximal than distal. Children usually walk late, fall easily, and walk slowly. The abnormal gait becomes obvious around the age of 3; motor development continues to improve at the beginning, but gradually shows th...

AI Technical Summary

Problems solved by technology

The mutation of DMD gene can destroy its mRNA open reading frame, seriously affect the synthesis and function of dystrophin protein, lead to the destruction of dystrophin protein complex, increase the fragility and stability of muscle cell membrane, strong muscle contraction aggravates the rupture of muscle cell membrane, and makes calcium Ion influx accelerates muscle fiber destruction leading to clinical manifestations of Duchenne / Bein muscular dystrophy

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