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Gene mutant and application thereof

A technology of genes and uses, applied in medical preparations containing active ingredients, biochemical equipment and methods, organic active ingredients, etc.

Active Publication Date: 2020-03-13
SHENZHEN HUADA GENE INST +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the strong genetic heterogeneity of hereditary X-linked intellectual disability, there are still a large number of pathogenic genes and mutations that have not been identified, so there is still a lot of room for research in this area, and it is still necessary to continue to strengthen the genetic and Research on Mutation Identification

Method used

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  • Gene mutant and application thereof
  • Gene mutant and application thereof
  • Gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0070] The inventor screened a candidate variant of an X-linked mental retardation patient through the whole genome sequencing of the male proband and the Sanger verification technology of the trios (male proband + normal parents) family sample, and performed the whole genome sequencing data of the male proband. Bioinformatics analysis, screening of non-pathogenic nucleotide variants, reducing the number of candidate variants, designing primers for candidate variants, PCR amplification, product purification, Sanger sequencing, detection of candidate variants in family members, co-segregation analysis, clear Relationship between gene mutation and disease. The specific method steps are as follows:

[0071] 1. Sample collection:

[0072] The inventor collected samples from a Chinese Han mentally handicapped proband and his parents, including 1 blood sample from the patient and 1 blood sample from each parent with a normal phenotype. 2 ml of peripheral blood samples were collect...

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Abstract

The invention discloses nucleic acid related to X-linked intellectual disability, a gene mutant and an application thereof. Compared with a wild type OPHN1 gene, the nucleic acid related to the X-linked intellectual disability has c.1534G>T mutation. The nucleic acid disclosed by the invention is a new mutated nucleic acid on the OPHN1 gene related to the X-linked intellectual disability, and whether a biological sample suffers from the X-linked intellectual disability or not can be effectively detected by detecting whether the nucleic acid exists in the biological sample or not. The discoveryof the pathogenic mutation site on the OPHN1 gene further expands and perfects the detection and research of the X-linked intellectual disability, and provides a new detection site, a new detection method and a new detection way for the diagnosis or treatment of the disease.

Description

technical field [0001] The present invention relates to the field of biology, specifically, the present invention relates to gene mutants and applications thereof, more specifically, the present invention relates to nucleic acids, gene mutations, polypeptides, biological models, drugs for the treatment of X-linked mental retardation, for detecting Kits, constructs and recombinant cells for X-linked intellectual disability. Background technique [0002] Congenital mental retardation is mainly a complex disease caused by abnormal development of the central nervous system and may be accompanied by symptoms such as metabolic disorders. According to statistics, patients with mental retardation account for 1% to 3% of the total population, and the male to female ratio is (1.4 to 1.6 ):1. Factors causing congenital intellectual disability include changes in gene copy number, deletion or insertion of small fragments of nucleotides, abnormal function of regulatory elements, epigenet...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11A61K31/711A61P25/00
CPCA61K31/711A61P25/00C12Q1/6883C12Q2600/156
Inventor 覃玉蓉郭健周静严海生张通达尹珍珍谢建生王勤
Owner SHENZHEN HUADA GENE INST
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