Polygene molecular diagnosis model as well as a construction method and application thereof

A construction method, molecular diagnosis technology, applied in the fields of genomics, medical automation diagnosis, biochemical equipment and methods, etc., to achieve the effect of good application prospects

Pending Publication Date: 2020-11-27
SHENZHEN CHILDRENS HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0006] The embodiment of the present invention aims to provide a polygenic molecular diagnosis model, its construction method and application, aiming to solve the defects existing in the existing ASD clinical genetics evaluation method

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  • Polygene molecular diagnosis model as well as a construction method and application thereof
  • Polygene molecular diagnosis model as well as a construction method and application thereof
  • Polygene molecular diagnosis model as well as a construction method and application thereof

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Embodiment Construction

[0042] In order to facilitate the understanding of the present invention, the present invention will be described in more detail below in conjunction with the accompanying drawings and specific embodiments. It should be noted that when an element is said to be "fixed" to another element, it may be directly on the other element, or there may be one or more intervening elements therebetween. When an element is referred to as being "connected to" another element, it can be directly connected to the other element or one or more intervening elements may be present therebetween. The orientation or positional relationship indicated by the terms "upper", "lower", "inner", "outer", and "bottom" used in this specification is based on the orientation or positional relationship shown in the drawings, and is only for the convenience of describing the The invention and the simplified description do not indicate or imply that the device or element referred to must have a specific orientation...

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Abstract

The embodiment of the invention relates to a polygene molecular diagnosis model as well as a construction method and application thereof. The construction method comprises the following steps: collecting research objects in a discovery stage and a verification stage, wherein the research objects are healthy people and patients with autism spectrum disorder; in the discovery stage, carrying out statistics to obtain mutation sites with significant differences between the healthy person and the autism spectrum disorder patient; in the verification stage, carrying out statistics to obtain mutationsites with significant differences between the healthy person and the autism spectrum disorder patient; constructing a machine learning model based on the mutation sites with significant differencesin the discovery stage and the verification stage, wherein the machine learning model is a classifier. The multi-gene molecular diagnosis model can systematically evaluate ASD child immune response molecule gene mutation conditions, is valuable for autism diagnosis and is used for assisting early diagnosis of autism, and intervention is carried out in advance.

Description

【Technical field】 [0001] The invention relates to the technical field of gene diagnosis, in particular to a multigene molecular diagnosis model, its construction method and application. 【Background technique】 [0002] Autism Spectrum Disorders (ASD, Autism Spectrum Disorders) is a group of neurological developmental disorders that affect life, affecting more than 1% of school-age children, and has caused serious economic and social burdens to ordinary families and the entire society. Viable laboratory diagnostic methods and effective curative options. [0003] Early evidence has shown that immune system disorders are associated with ASD. Infection / immune activation during pregnancy (maternalimmune activation, MIA) is an environmental risk factor for ASD. Offspring of MIA mice often show ASD-like behaviors, which is a relatively successful ASD child. Mouse model, Choi et al. found that MIA-induced ASD-like behaviors depend on Th17 cells and maternal IL-17a, and blocking IL-1...

Claims

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Application Information

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IPC IPC(8): G16H50/20G16H50/70G16B20/50G16B20/20G16B40/00C12Q1/6883
CPCG16H50/20G16H50/70G16B20/50G16B20/20G16B40/00C12Q1/6883C12Q2600/156Y02A90/10
Inventor 周家秀林飞飞王明帮林鄞
Owner SHENZHEN CHILDRENS HOSPITAL
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