Digital PCR kit for detecting spinal muscular atrophy and application thereof

Abstract

The invention provides a digital PCR kit for detecting spinal muscular atrophy. The digital PCR kit is a digital PCR kit for simultaneously detecting an SMN1 exon 7, an SMN1 exon 8, an SMN2 exon 7 andan internal reference gene in a sample to be detected in a one-tube digital PCR reaction, and the SMN1 exon 7, the SMN1 exon 8, the SMN2 exon 7 and the internal reference gene are simultaneously detected in at least four fluorescence channels. The kit disclosed by the invention is based on a digital PCR technology, can be used for quantitatively detecting the copy numbers of the SMN1 exons 7 and8 and the SMN2 in one tube, and can be applied to SMA clinical definite diagnosis, carrier screening and disease typing.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a digital PCR kit for detecting spinal muscular atrophy and its application. Background technique [0002] The autosomal recessive disorder spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of alpha motor neurons in the spinal cord, leading to progressive weakness and paralysis of proximal muscles. SMA is the most common fatal autosomal recessive disease after cystic fibrosis, with an incidence rate of 1 / 6000-1 / 10000 and a carrier rate of 1 / 40-1 / 60. [0003] SMA is caused by mutations or deletions in the SMN1 gene. The SMN1 gene of normal people has 2 copies of the gene, and 95% of SMA patients have a homozygous deletion of SMN1 exon 7 (0 copy), and most of them are exon 7 and 8 deleted at the same time, and only a few of them are only deleted Exon 7, there have also been reports of patients missing only exon 8. In the remaining 5% ...

AI Technical Summary

Problems solved by technology

qPCR is easy and fast to operate, but it needs to rely on the standard curve for quantification, and the existing kits cannot detect SMN1 exons 7, 8 and S

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