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Neuropsychiatric retardation and advanced cognitive function disorder virulence gene set as well as detection primer and kit thereof

A technology for cognitive dysfunction and developmental delay, which is applied in the field of biomedicine and genetic testing, and can solve problems such as unexplained etiology and pathogenesis

Active Publication Date: 2018-10-12
FIRST AFFILIATED HOSPITAL OF DALIAN MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The inheritance methods of such diseases mainly include monogenic inheritance, polygenic inheritance, and chromosomal variation, etc. However, the etiology and pathogenesis have not yet been clarified, especially the genetic pathogenic factors need to be further studied and discussed

Method used

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  • Neuropsychiatric retardation and advanced cognitive function disorder virulence gene set as well as detection primer and kit thereof
  • Neuropsychiatric retardation and advanced cognitive function disorder virulence gene set as well as detection primer and kit thereof
  • Neuropsychiatric retardation and advanced cognitive function disorder virulence gene set as well as detection primer and kit thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0036] The present invention collects a family similar to AHDS with mixed CP, including a sick brother ( figure 1 In III-2) and two identical twin brothers (III-3 and III-4) with the disease, both parents (II-2 and II-3) have normal phenotypes. The main clinical symptoms of the patient are neuropsychiatric Developmental delay and advanced cognitive dysfunction.

[0037] Patient III-2, male, had a full-term delivery at 42 weeks of gestation, and had a birth weight of 4200g; the cranial nerve examination was basically normal; motor development retardation was manifested in the reduction of trunk and limb muscle strength; in the quiet state, the muscle tension was reduced, but active activities When you are emotionally stressed, your muscle tension will increase unevenly and even tremors will occur, making it difficult to take care of your daily life (eating and going to the toilet).

[0038] Patients III-3 and III-4, male, identical twins, were delivered by cesarean section at 38 wee...

Embodiment 2

[0042] Sample collection

[0043] According to the requirements of the World Medical Association "Declaration of Helsinki", the patient’s parents signed an informed consent form with the Ethics Committee of the First Affiliated Hospital of Dalian Medical University.

[0044] Sample Preparation

[0045] Take the peripheral venous blood of patients (III-2, III3, and III4) and their parents (II-2 and II-3), and extract high-molecular-weight genomic DNA according to the BionanoPrep Blood DNA Isolation Protocol (Bionano Genomics Inc.). Throughput sequencing and next-generation optical atlas analysis, using spectrophotometer to measure DNA purity and concentration, and agarose gel electrophoresis to detect DNA quality.

[0046] Whole-genome high-throughput sequencing and next-generation optical atlas analysis

[0047] 1. Whole genome sequencing is performed in accordance with the instructions provided by Illumina for library construction and computer sequencing. The sequencing platform is th...

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Abstract

The invention provides a neuropsychiatric retardation and advanced cognitive function disorder virulence gene set as well as a detection primer and kit thereof. A method of the invention is to determine mutation sites of SLC16A2, KIF4A, MED15 and FAM83G as well as five structure mutant genes (CT55, DTX2P1-UPK3BP1-PMS2P11, EBF2, FAM173B and TMTC1) by virtue of a strategy combining the whole genomesequencing and new generation optical mapping technology. The neuropsychiatric retardation and advanced cognitive function disorder virulence virulence gene can be obtained, and the detection of the gene mutation can be used for assisting the diagnosis of the neuropsychiatric retardation and advanced cognitive function disorder.

Description

Technical field [0001] The invention belongs to the field of biomedicine and gene detection, and relates to a group of pathogenic genes of neuropsychiatric developmental delay and advanced cognitive dysfunction, and detection primers and kits thereof. Background technique [0002] The foundation of neuropsychiatric development is the growth and development of the nervous system, and neuropsychiatric activity is the performance of the nervous system's response to internal and external stimuli, including perception, reflex, movement, language, and emotional response to people around it. Neuropsychiatric retardation is a common developmental disorder in children. The main clinical manifestations are growth retardation, mental retardation, ataxia, atheletes, facial deformities, joint contractures, cognitive impairment, dysarthria, seizures Wait. [0003] There are many diseases that can cause neuropsychiatric developmental delay and advanced cognitive dysfunction, including Allen-Hern...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q1/686
Inventor 刘晶王亮辛成齐马静云
Owner FIRST AFFILIATED HOSPITAL OF DALIAN MEDICAL UNIV
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