Duchenne muscular dystrophy (DMD) detection gene chip and kit and use method of kit

Abstract

The invention discloses a duchenne muscular dystrophy (DMD) detection gene chip and kit and a use method of the kit. The gene chip comprises a solid phase carrier and an oligonucleotide probe fixed on the solid phase carrier, and the oligonucleotide probe is indicated in a nucleotide sequence of SEQ ID No. 1-345; the gene chip is contained in the kit; the use method of the kit includes the steps of a), preparing sample DNA fragments; b), fluorescently marking the DNA fragments; c), purifying gDNA markers; d), allowing the gDNA markers to be interbred with the gene chip; e), cleaning the interbred gene chip and scanning chip interbreeding signals to acquire results. The gene chip and the kit are low in cost, simple in detection operations, high in specificity and good in stability, the process from sample extraction to acquisition of the scanning results can be completed within two days, and the gene chip and the kit are suitable for detection for one or multiple exon deletion or repeat mutations in clinical patient DMA gene and antenatal diagnosis.

Description

technical field [0001] The invention belongs to the field of biotechnology, in particular to a gene chip for detecting pseudohypertrophic muscular dystrophy, a kit and a use method thereof. Background technique [0002] Pseudohypertrophic muscular dystrophy is a genetic disorder characterized by progressive muscle weakness and atrophy, and is the most common X-linked recessive, hereditary muscle wasting disorder, including Duchenne progressive muscular dystrophy (DMD) and Bayer's progressive muscular dystrophy Muscular dystrophy BMD, the overall incidence of the two is about 1 / 3500-1 / 5000 live-born male babies, both caused by DMD gene mutations. The dystrophin protein encoded by the DMD gene is mainly located in skeletal muscle and cardiac muscle, and has the function of protecting and stabilizing muscle fibers, and also has the function of intracellular chemical signal transduction. [0003] DMD patients generally have no obvious abnormalities after birth, and most childre...

AI Technical Summary

Problems solved by technology

However, MLPA technology has certain limitations, such as the need to accurately measure the concentration of DNA, the sample is easily contaminated, and there is a certain possibility of false positives, especially for the case of single exon deletion mutations, further verification experiments need to be carried out by PCR

Currently there is no rapid, low-cost, high-throughput and automated method for detecting deletion or duplication mutations of one or more exons within the DMD gene

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