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Probe and non-invasive kit for detecting pseudo-hypertrophic muscular dystrophy

A muscular dystrophy and detection probe technology, which is applied in the determination/testing of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc., can solve the problems of low detection rate, increase detection cycle and detection cost, and achieve cost Moderate, affordable effects

Active Publication Date: 2015-04-08
GUANGZHOU HETAI TECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

The outstanding problems of the above detection methods are: only part of the mutation types can be detected, and the detection rate is low; about 30% of the children need to be tested again, which increases the detection cycle and detection cost

Method used

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  • Probe and non-invasive kit for detecting pseudo-hypertrophic muscular dystrophy
  • Probe and non-invasive kit for detecting pseudo-hypertrophic muscular dystrophy
  • Probe and non-invasive kit for detecting pseudo-hypertrophic muscular dystrophy

Examples

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Effect test

Embodiment 1

[0110] In this example, DMD gene detection was performed on samples of 10 patients diagnosed as DMD by clinical muscle pathological biopsy provided by the neurology laboratory of the First Affiliated Hospital of Sun Yat-sen University, and the detection probe and method of the present invention were used in the detection process. These 10 samples have been molecularly diagnosed by conventional methods and the pathogenic mutations have been identified.

[0111] In addition, in this embodiment, DMD gene detection was performed on the samples of 6 female carriers using the detection probe and method of the present invention. All the 6 female carriers had given birth to children with DMD and were confirmed as carriers by routine molecular diagnosis.

[0112] The main instruments and equipment used in this embodiment are shown in Table 1. The main reagents used are listed in Table 2.

[0113] Table 1 The main instruments and equipment used in this example

[0114]

[0115] ...

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Abstract

The invention discloses a probe and a kit for detecting pseudo-hypertrophic muscular dystrophy. The probe for detecting pseudo-hypertrophic muscular dystrophy comprises nucleic acid sequences shown by SEQ NO:1-SEQ ID NO:546, and the kit for detecting pseudo-hypertrophic muscular dystrophy comprises nucleic acid sequences shown by SEQ ID NO:1-SEQ ID NO:546. The probe and the kit for detecting pseudo-hypertrophic muscular dystrophy can be used for detecting complete mutation information of DMD genes, including exon deletion / repetition and point mutation, have the advantages of completeness, rapidness, accuracy and appropriate price, and can be used for solving the problems of DMD molecular diagnosis; the kit disclosed by the invention is suitable for detection of various tissue samples of muscle, blood, amniotic fluid and the like, can detect pathogenic mutation of exons and introns as well as known mutations and unreported pathogenic mutations, and is also used for detecting whether patient genotypes are corrected or not after stem cell therapy.

Description

technical field [0001] The invention belongs to the field of biotechnology, and in particular relates to a kit for rapidly detecting mutations in genes causing pseudohypertrophic muscular dystrophy based on hybrid capture technology and semiconductor sequencing technology. Background technique [0002] Duchenne muscular dystrophy (Duchenne muscular dystrophy, DMD) is a disease characterized by progressive atrophy and weakness of proximal skeletal muscles of the extremities, pseudohypertrophy of the gastrocnemius muscle of the calf, involving both the myocardium and respiratory muscles, and some patients are accompanied by intellectual disability. A fatal X-linked recessive genetic disorder with an incidence of 1 / 3500 male births. The onset of the disease is from 3 to 5 years old, the patient loses the ability to walk around the age of 12, and dies in his 20s. Becker muscular dystrophy (Becker muscular dystrophy, BMD) and DMD are mutually allelic heterogeneous diseases, the ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6816C12Q1/6869C12Q1/6883C12Q2600/156C12Q2525/191
Inventor 尹鸿瑛陶锦胜吴春求陈样宜
Owner GUANGZHOU HETAI TECH CO LTD
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