6 results about "SMN1" patented technology

Disclosed is a method of determining whether a human subject is not a carrier of spinal muscular atrophy (SMA). This method includes the steps of (i) collecting a genomic deoxyribonucleic acid (DNA) sample from a human subject; (ii) screening the genomic DNA sample to determine the human subject's copy number of survival of motor neuron 1 (SMN1) gene and whether one of the copies of the SMN1 gene is positive for a polymorphism associated with non-carriers of SMA having two copies of the SMN1 gene; and (iii) determining the human subject as not a carrier of SMA if the human subject includes two copies of the SMN1 gene with one of those copies being positive for the polymorphism. Also disclosed is a method of determining whether an individual has a decreased risk of being a carrier of spinal muscular atrophy (SMA), where the individual is identified to have a decreased risk of being a carrier of SMA when the individual has two copies of the SMN1 gene with one of those copies being positive for the polymorphism.

To provide a combination therapy for spinal muscular atrophy.SOLUTION: Aspects of the present application relate to compositions and methods for treating spinal muscular atrophy in a subject. In particular, this application provides therapeutically combinations of recombinant nucleic acids encoding Survival of Motor Neuron 1 (SMN1) proteins (e.g., in viral vectors) and antisense oligonucleotides (ASOs) that increase full-length Survival of Motor Neuron 2 (SMN2) mRNA (e.g., ASOs that target nucleic acids molecules encoding Survival of Motor Neuron 2 (SMN2) and promote inclusion of exon 7 in SMN2mRNA).SELECTED DRAWING: None

This application discloses a primer set and its design method for detecting copy number variations in the SMN1 and SMN2 genes. The primer set includes a first primer for detecting exon 7 of the SMN1 gene, a second primer for detecting exon 8 of the SMN1 gene, a third primer for detecting exon 7 of the SMN2 gene, and a fourth primer for detecting exon 8 of the SMN2 gene. The 3′ ends of each of the first to fourth primers independently meet the following conditions: A1) The first base is absolutely conserved and is specifically complementary to the sequences of exons 7, 8, 7, and 8 of the SMN1, SMN1, and SMN2 genes, respectively; and A2) At least one mismatched base is introduced at positions 2 to 4. Using this primer set to detect copy number variations in the SMN1 and SMN2 genes ensures both specificity and amplification efficiency, as well as minimal dosage.

The application discloses application of a gene editing system in preparation of a spinal muscular atrophy model pig nuclear transfer donor cell with SMN1 gene mutation. The application provides application of SMN1-gRNA3 shown in SEQ ID NO: 16, SMN1-gRNA4 shown in SEQ ID NO: 17 and NCN protein in preparation of a kit. The application also provides a method for preparing a recombinant pig cell: SMN1-gRNA3, SMN1-gRNA4 and NCN protein are co-transfected into a pig cell to obtain a recombinant pig cell. The recombinant pig cell is a recombinant pig cell with SMN1 gene mutation. The kit is used for: preparing a recombinant pig cell; preparing a spinal muscular atrophy model pig; preparing a spinal muscular atrophy cell model or a spinal muscular atrophy tissue model or a spinal muscular atrophy organ model. The application has great application value for research and development of spinal muscular atrophy drugs and revealing the pathogenesis of the disease.

To provide a method for simultaneously measuring amounts of TREC, KREC and SMN1, an inspection method using the same, and a kit thereof.SOLUTION: A method for simultaneously measuring amounts of T-cell receptor recombination excision circle (TREC), Igκ-deleting recombination excision circle (KREC) and SMN1 gene by quantitative PCR includes: (i) a process of mixing DNA and PCR reagent collected from a subject, where the PCR reagent includes a set of primers and a set of probes; and (ii) a process of performing quantitative PCR reaction to quantitatively determine the amounts of TREC, KREC and SMN1 gene, where the set of primers includes six primers including base sequences shown by sequence numbers 4, 5, 7, 10, 37 and 38, and the set of probes includes three probes including base sequences shown by sequence numbers 22, 23 and 28.SELECTED DRAWING: None

The application provides a primer probe and kit for detecting SMN1 gene mutation. The kit comprises primers for detecting deletion mutation of SMN1 gene exons 7 and 8 respectively, and corresponding mutation detection probes and blocking probes. The application is more accurate and reliable by reducing the interference of SMN2 pseudogene. The triple amplification of SMN1 gene exons 7 and 8 and the reference Actin gene is completed in a single reaction tube by using the principle of multiplex PCR amplification, thereby improving the efficiency. Through reaction system optimization, the micro blood sample can be used for PCR amplification without purification of genomic DNA, the pretreatment is completed in 15 minutes, the whole detection is completed in about 2.5 hours, time and purification cost are saved, and the kit is suitable for high-throughput screening and detection of neonatal dried blood spots.