Pathogenic gene model of mental retardation and its construction method and application

A technology for intellectual disability and disease, applied in the field of genetic research, it can solve the problem that there is no cure for the disease

A technology for intellectual disability and disease, applied in the field of genetic research, it can solve the problem that there is no cure for the disease

CN106191032BActive Publication Date: 2019-07-19戴勇 +1
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  • Pathogenic gene model of mental retardation and its construction method and application
  • Pathogenic gene model of mental retardation and its construction method and application
  • Pathogenic gene model of mental retardation and its construction method and application

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Experimental program
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Embodiment Construction

[0025] The pathogenic gene model of mental retardation disease of the present invention and its construction method and application will be further described in detail below mainly in conjunction with the accompanying drawings and specific examples.

[0026] 1. Research object

[0027] This example was approved by the Medical Ethics Committee, and the informed consent of the experimental research subjects was obtained.

[0028] The proband, male, 22 years old, Han nationality, 175cm, 66kg, was normal at birth. He began to walk at the age of 3, and began to speak at the age of 5. The EEG and MRI of the brain were normal, and the pathological reflex of the nervous system was (-). Mental retardation was assessed as F71 according to the diagnostic criteria of the tenth edition of the International Classification of Diseases (ICD-10) .851, moderate mental retardation, F79.902, mental retardation, IQ50.

[0029] Family members of the proband, including his parents, older sister an...

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Abstract

The invention relates to a pathogenic gene model of mental retardation and a building method and application of the pathogenic gene model. The pathogenic gene model has the advantages that the pathogenic gene related to a corresponding patient with the mental retardation is found by analyzing the peripheral blood whole genome DNA of the patient with the mental retardation, the family members of the patient and normal people without the mental retardation, the pathogenesis of the mental retardation can be learned about favorably, and prenatal diagnosis and prevention can be achieved.

Description

technical field [0001] The invention relates to the technical field of gene research, in particular to a pathogenic gene model of mental retardation and its construction method and application. Background technique [0002] Mental retardation (MR) is a complex disease caused by abnormalities in the nervous system. During development, the general intellectual function of the patient is significantly lower than the average level of the same age, and at the same time, there is a significant deficit in the ability to adapt to the daily demands of the social environment, usually before the age of 18. As shown in the table below, intellectual disability can be divided into mild (IQ50-70), moderate (IQ35-50), severe (IQ20-35) and extremely severe (IQ<20) according to the degree of cognitive impairment. [0003] the term intelligence quotient extremely severe <20 severe 20-35 Moderate 35-50 mild 50-70 edge 70-85 [0004] The inc...

Claims

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Application Information

Patent Timeline
19 Jul 2019
Publication
CN106191032B
IPC
C12N15/10; C12Q1/6883
Inventors
戴勇; 郭辉