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Genetic novel mutations related with phenotype of neonatal low muscular tension and detection kit

A hypotonia and gene technology, applied in the field of new gene mutations and detection kits

Active Publication Date: 2016-03-23
CAPITALBIO CORP +1
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  • Application Information

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Problems solved by technology

[0007] The present invention has discovered that three new mutations—the c.602delA mutation of the MPZ gene, the c.1237A>C mutation of the MTM1 gene, and the c.231+2T>C mutation of the MTM1 gene are related to the hypotonia phenotype. The technical problem is how to diagnose hypotonia or screen patients with hypotonia

Method used

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  • Genetic novel mutations related with phenotype of neonatal low muscular tension and detection kit
  • Genetic novel mutations related with phenotype of neonatal low muscular tension and detection kit
  • Genetic novel mutations related with phenotype of neonatal low muscular tension and detection kit

Examples

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Embodiment 1

[0075] Example 1. Discovery of gene mutations related to neonatal hypotonia

[0076] In this example, using a new generation of high-throughput targeted resequencing technology, 110 known pathogenic genes were identified on 71 clinical samples with hypotonia phenotype and 17 normal human samples without hypotonia phenotype. High-throughput sequencing of exons and alternative splicing sites combined with bioinformatics analysis revealed the c.602delA mutation of the MPZ gene, the c.1237A>C mutation of the MTM1 gene and the c.231+2T>C mutation of the MTM1 gene The mutations were associated with neonatal hypotonia, and the three variants were verified by normal human sample screening and Sanger sequencing.

[0077] 1. Discovery of a gene mutation associated with neonatal hypotonia

[0078] Flowchart such as figure 1 shown.

[0079] 1. Sample Collection

[0080] The peripheral blood samples of 71 infants with clinical hypotonia phenotype were collected, and the peripheral bloo...

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Abstract

The invention discloses genetic novel mutations related with phenotype of neonatal low muscular tension and a detection kit. The provided products obtained through the low muscular tension related genetic novel mutations are: (D1) MPZ mutant protein, which is obtained through p.Lys201AsnfsTer51 mutation of MPZ; (D2) MTM1 mutant protein, which is obtained by converting the Ser (413rd of MTM1) into Arg; (D3) DNA molecule or cDNA molecule that encodes the MPZ mutant protein; (D4) DNA molecule or cDNA molecule that encodes the TMT1 mutant protein; (D5) DNA molecule or cDNA molecule that contains M, wherein M is a DNA molecule and is prepared by substituting the T, which is in the 2nd position of the fourth intron of the MTM1 gene, by C. Three novel mutations related with the phenotype of low muscular tension have an important meaning for the molecular diagnosis of neonatal low muscular tension.

Description

technical field [0001] The invention relates to a group of new gene mutations related to neonatal hypotonia phenotype in the field of biotechnology and a detection kit. Background technique [0002] Hypotonia is a relatively common abnormal clinical manifestation in infants and young children, and the clinical manifestations are different in different periods. The onset of neonatal period is soft limbs, accompanied by weak sucking and feeding difficulties, which is called "soft baby". Delay in the response of nerves related to joint and limb movement to stimuli, etc. [0003] There are many causes of neonatal hypotonia, most of which are genetic factors. Neonates with hypotonia caused by an abnormal number of chromosomes, such as Down syndrome. Neonatal hypotonia due to structural chromosomal abnormalities, such as Prader-Willi syndrome. Neonatal hypotonia caused by single gene disease: neuromuscular diseases, such as Rett syndrome, spinal muscular atrophy, myotonic dyst...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 李慧王艳郭弘妍田婕孙义民邢婉丽封志纯
Owner CAPITALBIO CORP
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