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Hereditary medullispinal cerebellar ataxia related gene

A technology 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: 2012-11-14
CENT SOUTH UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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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

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  • Hereditary medullispinal cerebellar ataxia related gene
  • Hereditary medullispinal cerebellar ataxia related gene
  • Hereditary medullispinal cerebellar ataxia related gene

Examples

Experimental program
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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 ...

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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

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Application Information

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Patent Type & Authority Patents(China)
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
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