Gene detection probe, primer and kit for spinal muscular atrophy

Abstract

The invention relates to a gene detection probe, a primer and a kit for spinal muscular atrophy, wherein the gene detection probe for spinal muscular atrophy comprises a probe SMN1-7 for detecting a SMN1 gene, and the nucleotide sequence is shown in SEQ ID No. 1; a probe SMN2-7 for detecting a SMN2 gene, and the nucleotide sequence is shown in SEQ ID No. 2. According to the invention, a multiple fluorescence quantitative detection system with high specificity and low cost is established. High frequency pathogenic mutation detection of the SMN1 and SMN2 genes in one tube is realized. In addition, a multiple scorpion tail primer amplification system is established, so that the problem of the amplification consistency of the multiple fluorescence quantitative systems is solved, and the quantitative accuracy is improved.

Description

technical field [0001] The invention relates to gene detection technology, in particular to a spinal muscular atrophy gene detection probe, primer and kit. Background technique [0002] Spinal muscular atrophy (SMA) is a relatively common genetic disease, and SMA with onset in children is autosomal recessive. The carrier incidence rate is 1 / 35-1 / 80. It was recently reported that the carrier frequency of the SMA pathogenic gene in the Chinese population is 1 / 42. Chromosomal genetic disease is second only to cystic fibrosis. The clinical manifestations are progressive and symmetrical limb weakness and muscle atrophy. The proximal end is heavier than the distal end. The facial muscles and extraocular muscles are not involved. There is no effective treatment plan at present. The clinical diagnosis of spinal muscular atrophy mainly depends on clinical manifestations , laboratory examination, family genetic history and genetic testing four aspects. [0003] In 1992, the Spinal ...

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Problems solved by technology

[0019] The Chinese invention patent with the application number 201310616780.8 discloses a fluorescent quantitative PCR kit for the diagnosis of human spinal muscular atrophy, which detects SMN1 and SMN2, and also adds the NAIP gene for detection, although it increases the detection of SMA disease. Genotyping, but this method uses Taqman to detect only a few single base differences in SMN1 and SMN2, which is likely to cause non-specificity, and has a very high risk in clinical testing

[0020] The Chinese invention patent with the application number 201710129136.6 discloses a spinal muscular atrophy-related gene copy number detection kit and method based on gene capture and next-generation sequencing technology. Long time, high cost, not conducive to clinical use

[0021] The Chinese invention patent with the application number 201710120076.1 discloses a spinal muscular atrophy-related gene mutation detection kit and its application. This solution only detects the SMN1 gene and cannot provide medication guidance. Capillary electrophoresis is time-consuming and costly

[0022] The Chinese invention patent with the application number 201611011935.5 discloses a spinal muscular atrophy gene detection kit and its application. This solution only detects the SMN1 gene and does not detect the SMN2 gene, so it cannot provide guidance for clinical medication

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