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Gene mutants and their applications

A gene and application technology, applied in the field of detection kits for X-linked mental retardation, drugs for treating X-linked mental retardation, constructs and recombinant cells

Active Publication Date: 2021-10-08
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 mutants and their applications
  • Gene mutants and their applications
  • Gene mutants and their applications

Examples

Experimental program
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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 a nucleic acid related to X-linked mental retardation, a gene mutant and application thereof. The nucleic acid associated with X‑linked intellectual disability has a c.1534G>T mutation compared with the wild-type OPHN1 gene. The nucleic acid of the present invention is a new mutated nucleic acid on the OPHN1 gene related to X-linked mental retardation. By detecting whether the nucleic acid exists in the biological sample, it can effectively detect whether the biological sample suffers from X-linked mental retardation. The discovery of the pathogenic mutation site on the OPHN1 gene has further expanded and improved the detection and research of X-linked intellectual disability, and provided a new detection site, as well as a new detection method and approach 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 Patents(China)
IPC IPC(8): C12N15/11C12Q1/6883A61K31/711A61P25/00
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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