Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Hereditary medullispinal cerebellar ataxia related gene

A technique for spinocerebellar and ataxia, which is applied in the field of molecular pathology and can solve problems such as unclear disease-causing genes

Active Publication Date: 2011-10-19
CENT SOUTH UNIV +1
View PDF2 Cites 1 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, about 33% of SCA patients worldwide do not have the above-mentioned 19 hereditary spinocerebellar ataxia pathogenic gene mutations, and the causative genes are still unclear

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Hereditary medullispinal cerebellar ataxia related gene
  • Hereditary medullispinal cerebellar ataxia related gene
  • Hereditary medullispinal cerebellar ataxia related gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0036] Example 1: Verification of the relationship between hereditary spinocerebellar ataxia-related genes and SCA diseases

[0037] The inventor collected a four-generation inherited autosomal dominant SCA family. The patients in the family showed progressively aggravated walking difficulties and cerebellar dysarthria. Most of the patients had active / hyperactive tendon reflexes. Head tremor and spastic torticollis, head magnetic resonance imaging (MRI) showed moderate atrophy of the cerebellum and mild atrophy of the brainstem.

[0038] 18 normal persons (7 males, 11 females), 9 SCA patients (5 males, 4 females), and 3 patients with unclear clinical diagnosis (2 males, 1 female) in the family The hereditary spinocerebellar ataxia-related genes in the genome were detected, and the sequence of exon 10 of the hereditary spinocerebellar ataxia-related gene was obtained by PCR amplification, product purification, and sequencing. According to the sequence determination results, it ...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention belongs to the field of molecular pathology, and relates to a hereditary medullispinal cerebellar ataxia related gene (mutant), particularly a hereditary medullispinal cerebellar ataxia related gene of which the amino acid sequence is disclosed as SEQ ID NO:7 or SEQ ID NO:9, and more particularly a hereditary medullispinal cerebellar ataxia related gene of which the nucleic acid sequence is disclosed as SEQ ID NO:6 or SEQ ID NO:8. The invention also relates to a recombinant vector containing the medullispinal cerebellar ataxia related gene, a recombinant cell containing the recombinant vector, and a coding protein of the medullispinal cerebellar ataxia related gene. Besides, the invention also relates to an exon of the hereditary medullispinal cerebellar ataxia related gene and a coding protein thereof. The invention provides references for auxiliary molecular diagnosis, molecular typing, prenatal diagnosis, drug target selection and clinical treatment of the hereditary medullispinal cerebellar ataxia.

Description

technical field [0001] The present invention belongs to the field of molecular pathology, and relates to a hereditary spinocerebellar ataxia-related gene (mutant type) (hereinafter also referred to as "SCA-related gene" or "SCA-related gene mutant type"). The present invention also relates to a recombinant vector containing the genetic spinocerebellar ataxia-related gene, a recombinant cell containing the recombinant vector, and the encoded protein of the genetic spinocerebellar ataxia-related gene. The invention also relates to an exon of a gene related to hereditary spinocerebellar ataxia and its encoded protein. Background technique [0002] Hereditary spinocerebellar ataxias (hereditary spinocerebellar ataxias, SCA) is a neurodegenerative disease with high clinical and genetic heterogeneity, and its inheritance mode is mostly autosomal dominant (autosomal dominant, AD). Patients are more common in young and middle-aged patients. Clinically, cerebellar ataxia is the main...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12N15/12C12N15/63C12N15/11C12N1/15C12N1/19C12N1/21C12N5/10C07K14/47
CPCC07K14/47
Inventor 唐北沙王俊岭翁翎张朋苏政金鑫
Owner CENT SOUTH UNIV
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com