Detection kit for virulence gene of spinal muscular atrophy and application thereof

Abstract

The invention provides a detection kit for virulence gene of spinal muscular atrophy and application thereof, comprising primer SMN-Ex7-F with such sequences as SEQ ID NO.1; primer SMN-Ex7-R with such sequences as SEQ ID NO.2 and probe SMN-Ex7-P with such sequences as SEQ ID NO.3. The above kit in the invention can be applied to detect the carrier of spinal muscular atrophy virulence gene, comprising the steps of extracting the genome DNA from subject to be detected; precisely quantifying the genome DNA from subject to be detected; and performing primary fluorescent quantitation PCR based on genome DNA from subject to be detected as the template to obtain the primary fluorescent quantitation curve. The kit in the invention can visually, precisely, quickly and succinctly detect the SMN1 gene, so as to realize the distinguishing of SMA virulence gene carrier and normal people.

Description

technical field [0001] The invention relates to a detection kit, in particular to a spinal muscular atrophy pathogenic gene detection kit and application thereof. Background technique [0002] Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease. It is a neuromuscular genetic disease caused by genetic mutations that lead to degeneration of the anterior horn cells of the spinal cord. The clinical manifestations are progressive, symmetrical proximal limb and trunk muscle weakness. , atrophied, and the patient eventually died of respiratory failure and severe lung infection. SMA is the second most fatal autosomal recessive genetic disease with no effective treatment. The incidence of SMA in live births is about 1 / 6000-1 / 10000, and the carrier rate in the population is 1 / 35-1 / 80. In view of the high carrier rate and morbidity rate of SMA in the Chinese population, marriage and fertility guidance through SMA carrier screening is the most effective way to bloc...

AI Technical Summary

Problems solved by technology

PCR-RFLP, allele-specific amplification, and HRM techniques are only suitable for detecting homozygous deletions of the SMN1 gene, but cannot distinguish SMA pathogenic gene carriers with heterozygous deletions from normal individuals without deletions

MLPA technology is currently the mainstream technology for SMA laboratory diagnosis. This method uses the SMA MLPA detection kit from MRC Company in the Netherlands, which is expensive (>150 yuan / sample), and requires expensive analytical instruments such as capillary electrophoresis, which takes a long time and is not suitable for For screening of large populations

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