Human motor neuron gene copy number relative quantitative detection method and kit

Abstract

The invention discloses a human motor neuron gene copy number relative quantitative detection method and a detection kit. The kit provided by the invention contains a single-stranded DNA group A for specifically detecting the seventh exon of the SMN gene and / or a single-stranded DNA group B for specifically detecting the eighth exon of the SMN gene, and each single-stranded DNA group consists of acommon primer and two probes for respectively detecting the SMN1 gene and the SMN2 gene. The kit is high in accuracy and good in repeatability. The method has important significance for rapidly screening SMN1 gene and SMN2 copy number and reducing birth rate of SMA children patients.

Description

technical field [0001] The invention relates to the technical field of in vitro detection of human nucleic acid, in particular to a relative quantitative detection method and a detection kit for human motor neuron gene copy number. Background technique [0002] Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. It includes motor neuron survival genes (Survival of Motor Neuron, SMN) located on human chromosome 5, including motor neuron survival gene 1 (SMN1) at the telomere end and motor neuron survival gene 2 (SMN2) at the centromere end, Both have 8 exons, which are exon 1, exon 2a, exon 2b, and exons 3-8. SMA is a common autosomal recessive genetic disease of the nervous system, with an incidence rate as high as 1 / 6000 to 1 / 10000, ranking second among fatal autosomal recessive genetic diseases of the nervous system. Studies have shown that the copy number of SMN may be related to the prognosis and phenotype of sporadic amyotrophic lateral scle...

AI Technical Summary

Problems solved by technology

However, most current real-time fluorescent quantitative PCR techniques only design primers or probes for exon 7 of the SMN1 gene, and use traditional MGB modified probes, which cannot distinguish a difference of one base

Large-sample studies have shown that in the carrier population, the SMN2 gene copy number can be as many as 4 or more. For carriers with only 1 copy of SMN1, MGB probes cannot avoid the advantage of multi-copy SMN2 gene amplification versus single copy. The influence of SMN1 gene will lead to the bias of relative quantitative results

Moreover, most fluorescent quantitative PCR techniques only detect the SMN1 gene, not the SMN2 gene, and cannot provide guidance for clinical medication