Human embryo spinal muscular atrophy mutant gene detection kit

A gene-specific technology, applied in the field of human embryonic spinal muscular atrophy mutation gene detection primers and corresponding kits, can solve the problems of low sensitivity and unsuitability for screening before single cell transplantation, and achieve high sensitivity and low cost Low, highly specific effects

Inactive Publication Date: 2015-12-02
SHANDONG SHANDA HOSPITAL FOR REPRODIVE MEDICINE +1
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However, these methods have low sensitivity and are only suitable for using neonatal periph...

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  • Human embryo spinal muscular atrophy mutant gene detection kit
  • Human embryo spinal muscular atrophy mutant gene detection kit
  • Human embryo spinal muscular atrophy mutant gene detection kit

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Embodiment Construction

[0039] In the present invention, reads refer to sequence fragments obtained by sequencing.

[0040] In the present invention, single nucleotide polymorphism (singlenucleotide polymorphism, SNP) refers to a DNA sequence polymorphism caused by a single nucleotide variation at the genome level.

[0041] In the present invention, haplotype (Haplotype) refers to a group of interrelated single nucleotide polymorphisms located in a specific region of a chromosome and tends to be inherited as a whole to offspring. The combination is also called haplotype or haplotype .

[0042] In the present invention, the genomic DNA is obtained by taking out 3 to 5 peripheral trophoblast cells when the embryo develops to the blastocyst stage, and enriching the genomic DNA in the cells by using the whole genome amplification method.

[0043] In the present invention, the enrichment of DNA molecules in the target region adopts the method of multiplex PCR amplification. For specific principles and m...

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Abstract

The invention provides a method for detecting SMN1 mutation based on the high throughput sequencing technology and a corresponding kit, wherein the used primer composition comprises primers of the No. 7 exon of the specific amplification SMN1 gene and primers of close linkage SNP of the specific amplification SMN1 gene within the upstream and downstream 3Mb range. The method disclosed by the invention has the advantages of universality, multi-site SNP sequencing, high flux, low cost, and high sensitivity and specificity.

Description

technical field [0001] The invention relates to the field of gene diagnosis, in particular to primers for detecting mutant genes of human embryonic spinal muscular atrophy and corresponding kits. Background technique [0002] Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive, symmetrical muscle weakness and muscle atrophy, characterized by degeneration of the anterior horn cells of the spinal cord. The second most fatal autosomal recessive genetic disorder. In live births, the incidence rate is about 1 / 10000 to 1 / 6000, and the population gene carrier rate is about 1 / 40 (KolbSJ, KisselJT. Spinalmuscularatrophy. ArchNeurol, 2011, 68(8): 979-984). There is currently no effective treatment for SMA. For those with slow progression, physiotherapy, braces, and special corrective devices are the main methods to prevent scoliosis and joint spasms, but these treatments cannot cure the disease. Therefore, it is particularly im...

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6869C12Q1/6883C12Q2600/156C12Q2531/113C12Q2535/122
Inventor 高媛刘小军邢丽贤邓红辉杨凯冯涛
Owner SHANDONG SHANDA HOSPITAL FOR REPRODIVE MEDICINE
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