Method for detecting heterozygous dmd gene deletion and primers used

Abstract

The invention discloses primers for detecting heterozygosity DMD gene deletion. The primers are special primers which are designed for 79 exon regions of a DMD gene and have products of 370-400 bp. Each pair of specificity primers at least have 20 bp of overlapping regions, a universal sequence and 5 continuous N basic groups are designed at the end 5' of each specificity primer, and the primers are named as labels. The invention further provides a method for detecting heterozygosity DMD gene deletion through the primers. On the basis of second-generation sequencing, by means of the method, the homozygosis and heterozygosity deletion can be detected, and therefore a carrier of the DMD genetic disease can be effectively detected, and pregnant women are guided to give birth to healthy infants through antenatal diagnosis, test tube babies and other methods.

Description

technical field [0001] The invention belongs to the field of molecular biology, and in particular relates to a method for detecting gene deletion mutations based on next-generation sequencing. Background technique [0002] DMD (Duchenne Muscular Dystrophy) is a serious neuromuscular genetic disease, an X-linked recessive genetic disease, generally known as Duchenne muscular dystrophy or pseudohypertrophic progressive muscular dystrophy in China. The incidence is more complicated, about 65% are related to genetics, and 35% are caused by individual mutations. DMD is the most common form of muscular dystrophy. There is also a benign subtype called BMD (Becker Muscular Dystrophy), known as Becker Muscular Dystrophy. Because part of the incomplete dystrophin can be retained in the body, patients usually have symptoms later (5-15 years old), with mild clinical manifestations, relatively slow development, and a longer course of disease than DMD. About 3,000 new cases of DMD are a...

AI Technical Summary

Problems solved by technology

The current MLPA method can detect deletions and duplications, but there are large false negatives, while using next-generation sequencing, it can detect point mutations and small deletions and insertions within 20bp, while heterozygous large deletions and duplications are not helpless

The qPCR method can only verify known deletion mutations, but cannot detect deletions in unknown regions.

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