Capture probe set and kit for detecting human mitochondrial genes

Abstract

The invention provides a probe set and kit for detecting human mitochondrial genes. The probe set covers sequences of human mitochondrial genome, and the sequences of the probe are SEQ ID No: 1-213. Genetic mutation information of mitochondrial DNA such as amplification, deficiency and mutation can be detected at a time in connection with gene capture sequencing technology being awarded with a patent application approval, multiple samples can be treated at same time, and the probe set and kit have the advantages of low time consumption, low cost and high specificity, and sequencing effect can be improved significantly. The invention also provides a kit for detecting human mitochondrial genome, the kit comprises capture probes and related reagents to detect mitochondrial genome; the use of the capture probe set and kit can provide basis for taking correct and reasonable interventions as soon as possible, and the development tendency of precision medical treatment is satisfied.

Description

technical field [0001] The invention belongs to the fields of gene detection and molecular genetics, and specifically relates to a probe group and a kit for capturing and sequencing human mitochondrial genes. Background technique [0002] Mitochondria are a fundamental and important organelle present in most eukaryotic cells. It is the place where cells undergo oxidative phosphorylation, and participates in energy metabolism, cell apoptosis, maintenance of intracellular calcium and iron ion balance and signal transduction of other life activities. The full length of human mitochondrial DNA (mtDNA) is 16596bp. It is a very compact circular double-stranded DNA. The outer ring is a heavy chain (H), and the inner ring is a light chain (L). Except for one, it is actually related to DNA replication. Outside the 87bp D loop, other genes have no introns. mtDNA contains a total of 37 genes, of which 22 encode transfer ribonucleic acid (tRNA), 2 encode ribosomal ribonucleic acid (12...

AI Technical Summary

Problems solved by technology

Direct sequencing is so far the gold standard for mutation analysis. At present, only a few common mitochondrial gene loci can be selected for mutation and deletion screening. The positive rate is very low, and most of them are difficult to obtain accurate detection results. In addition, these loci Most of them are based on the experimental data of other races, and the gene mutation sites of Chinese and Europeans may be very different. Therefore, the existing methods have great limitations

Cannot fully meet the current diagnostic needs of mitochondrial gene mutations

Although the traditional Sanger sequencing method can realize the analysis of the whole mitochondrial DNA gene sequence for the detection and analysis of mitochondrial gene mutations, the cost of Sanger sequencing is high, the sequencing background is high, the detection sensitivity is limited, and it cannot process a large number of samples at the same time , so it cannot be applied on a large scale in clinical diagnosis

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