42 results about "SMN1" patented technology

The invention relates to a fluorescent quantitative PCR (Polymerase Chain Reaction) kit for diagnosing human spinal muscular atrophy. The fluorescent quantitative PCR kit comprises amplification primers and fluorescent probes. The fluorescent quantitative PCR kit is characterized in that the amplification primers include a pair of shared primers used for specifically amplifying SMN1 (Survival Motor Neuron 1) and SMN2 (Survival Motor Neuron 2) genes, a pair of primers used for specifically amplifying an NAIP (Neuronal Apoptosis Inhibitory Protein) gene and a pair of primers used for specifically amplifying a reference sequence; the fluorescent probes include a fluorescent probe used for specifically detecting the SMN1 gene, a fluorescent probe used for specifically detecting the SMN2 gene, a fluorescent probe used for specifically detecting the NAIP gene and a fluorescent probe used for specifically detecting the reference sequence; the reference sequence is as shown in SEQ NO.14,and is positioned in a GRCh37 / hg19chr5:71107506-71107618 interval positioned on the 78kb position of the telomere side of the NAIP gene. The fluorescent quantitative PCR kit disclosed by the invention remarkably enhances the accuracy and stability of diagnosis by taking the DNA (Desoxvribose Nucleic Acid) sequence positioned at the telomere side of the NAIP gene as the reference sequence.

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.

The invention provides a series of recombinant adeno-associated viruses carrying designed SMN1 gene expression cassettes. An in vivo experiment indicates that the recombinant adeno-associated virusescan be efficiently introduced into a central nervous system, SMN1 protein is continuously and stably expressed, the lifetime of a spinal muscular atrophy (SMA) model animal is prolonged, its weight isincreased, and its growth and development are restored. Results indicate that the recombinant adeno-associated viruses can be used for developing new SMN1 gene mutation caused spinal muscular atrophytreatment drugs.

The invention relates to a spinal muscular atrophy detection kit. The kit comprises a reagent which is used for quantitatively detecting the genotype of the 7th exon of an SMN1 gene by a droplet typedigital PCR method, wherein the reagent is a reagent for quantitatively detecting the copy number of the 7th exon of an SMN1 gene based on the droplet type digital PCR method. The kit has high exon detection accuracy, good repeatability, no false positive or false negative, high sensitivity and short detection time.

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy. In a specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN2 into mRNA that is transcribed from the SMN2 gene. In another specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 into mRNA that is transcribed from the SMN1 gene. In yet another embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 and SMN2 into mRNA that is transcribed from the SMN1 and SMN2 genes, respectively.

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.

A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1 / SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.

The invention relates to a CRISPR-Cas system, in particular to a CRISPR-Cas system for diagnosing spinal muscular atrophy and application thereof. The CRISPR-Cas system for diagnosing spinal muscularatrophy disclosed by the invention comprises Cas14a1, crRNA, ssDNA and FQ-probe. A method based on combination of CRISPR / Cas14a1 and asymmetric PCR constructed by the invention can perform gene detection for SMA patients, and can be used for specifically detecting the mutation condition of SMN1 gene. Different from an existing CRISPR / Cas12a SMA diagnosis technology, the kit can also distinguish SMN2 gene interference so as to judge whether a detected person suffers from the spinal muscular atrophy or not, and has the characteristics of simple and convenient operation, high specificity and lowcost.

Provided are tricyclo-DNA (tc-DNA) AON and methods employing tc-DNA AON for modifying splicing events that occur during pre-mRNA processing. Tricyclo-DNA (tc-DNA) AON are described that may be used to facilitate exon skipping or to mask intronic silencer sequences and / or terminal stein-loop sequences during pre-mRNA processing and to target RNase-mediated destruction of processed mRNA. Tc-DNA AON described herein may be used in methods for the treatment of Duchenne Muscular Dystrophy by skipping a mutated exon 23 or exon 51 within a dystrophin gene to restore functionality of a dystrophin protein; in methods for the treatment of Spinal Muscular Atrophy by masking an intronic silencing sequence and / or a terminal stem-loop sequence within an SMN2 gene to yield modified functional SMN2 protein, including an amino acid sequence encoded by exon 7, which is capable of at least partially complementing a non-functional SMN1 protein; and in methods for the treatment of Steinert's Myotonic Dystrophy by targeting the destruction of a mutated DM1 mRNA comprising 3′-terminal CUG repeats.

The invention relates to a device, a method and a system for detecting SMN1 gene mutation by analyzing a high-throughput sequencing result, in particular the homozygous deletion of a seventh exon of an SMN1 gene. The invention also relates to the use of the device, method and system according to the invention to diagnose spinal muscular atrophy (SMA) or differentially diagnose SMA and other diseases that are susceptible to confusion with the SMA phenotype, as well as to a machine-readable medium and a terminal device on which the method according to the invention is stored.

The invention discloses a detection method for the number of multiple copies of an SMN2 gene. The detection method comprises the following steps: S1, designing primers for specifically amplifying theSMN2 gene according to difference bases on the No.6 and No.7 introns of the SMN2 gene and NO.6 and NO.7 introns of an SMN1 gene, introducing mispairing bases at the antepenultimate bases of the 3' terminals of the primers for specifically amplifying the SMN2 gene, designing a specific detection probe SMN2-P aiming at the SMN2 gene, carrying out labeling at the 5' terminal and the 3' terminal of the probe, aiming at an RPP30 gene, designing the specific primers RPP30-F\RPP30-R and the probe RPP30-P, and carrying out labelling at the 5' terminal and the 3' terminal of the probe; S2, extracting sample DNA through peripheral blood; and S3, preparing a PCR reaction system, carrying out the PCR procedure, collecting the marks, and quantifying the copy number. The detection method is low in cost,and the accuracy in quantifying the detected copy number is high.