Kit for screening spinal muscular atrophy virulence gene carrier and application of kit

Abstract

The invention discloses a kit for screening a spinal muscular atrophy (SMA) virulence gene carrier and application of the kit, and belongs to the field of gene detection. The copy number of exon7 of a main virulence gene SMN1 of spinal muscular atrophy is quantitatively detected by a fluorescent quantitation PCR method based on a Taqman probe, so that distinguishing between the spinal muscular atrophy virulence gene carrier and a non carrier is realized. The kit can be quickly and conveniently applied to screening the spinal muscular atrophy virulence gene carriers from a large scale of people, is particularly suitable for screening on antenatal, premarital and pre-pregnant people and gene diagnosis on patients and is high in repetitiveness and accurate in result.

Description

technical field [0001] The invention particularly relates to a kit and a screening method which can be used for screening the pathogenic gene carriers of spinal muscular atrophy, belonging to the field of gene detection. Background technique [0002] Spinal muscular atrophy (SMA) is a neuromuscular disease that is inherited as an autosomal recessive disorder. It affects 1 in 6,000 births. The clinical manifestations are progressive, symmetrical muscle atrophy and muscle weakness. So far, there is no effective treatment for SMA, and the prognosis is mainly related to the type of disease. The general survival time of type I patients is less than 2 years old, the survival time of type II patients is less than 5 years old, and the type III patients can survive to adulthood. Slow, eventually died of respiratory muscle paralysis, or systemic failure. [0003] Two genes related to SMA have been found so far, namely neuronalapoptosisinhibitoryprotein (NAIP) and motor neuron survi...

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Problems solved by technology

[0005] The SMA gene diagnostic methods adopted in the prior art mainly contain polymerase chain reaction-restriction fragment length polymorphism analysis technique, allele-specific amplification, multiplex ligation probe-dependent amplification technique (MLPA) etc., However, restriction fragment length polymorphism analysis and allele-specific amplification can only qualitatively detect whether a patient has SMN1 gene homozygous deletion, and cannot distinguish SMN1 pathogenic gene carriers.

Although MLPA can carry out carrier detection, its technical cost is high, the equipment requirements are high, the operation is complicated, and it takes a long time, so it is not suitable for large-scale clinical screening.

[0006] Although patents such as CN103789440A, CN103614477A, ​​and CN104480206A have also proposed the use of fluorescent PCR and other technologies to detect spinal muscular atrophy-related gene mutations, these technical solutions generally have low accuracy, poor reliability, and high cost, which is not conducive to large-scale populations. Defects such as screening

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