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Related genes of autosomal recessive cerebellar ataxia

An autosomal recessive, ataxia technology, applied in the field of molecular pathology, can solve problems such as undiscovered CHIP gene mutations

Inactive Publication Date: 2012-08-01
XIANGYA HOSPITAL CENT SOUTH UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] So far, no mutations in the CHIP gene have been found to be directly associated with a specific disease

Method used

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  • Related genes of autosomal recessive cerebellar ataxia
  • Related genes of autosomal recessive cerebellar ataxia
  • Related genes of autosomal recessive cerebellar ataxia

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0048] Example 1: CHIP gene mutation chro16:671573; 1, C / T detection method

[0049] (1) Specimen collection and processing. The inventor carried out detailed medical history, family history investigation, comprehensive physical examination and related assistance to 5 normal persons (3 males and 2 females) and 4 ARCA patients (1 male and 3 females) in family A. examine. After signing the informed consent form, each person took 10ml of cubital venous blood (anticoagulated with sodium citrate), stored at 4°C, and extracted DNA within two weeks according to the method for extracting DNA from blood in the second edition of "Molecular Cloning".

[0050] (2) Carry out in vitro PCR amplification of the sample DNA target fragment. The following primers were designed according to the ARCA-related gene sequence SED ID NO.23;

[0051] Forward primer; F: 5'-GACGGGCAGTCTGTGAAGG-3'(SED ID NO.13)

[0052] Reverse primer; R: 5'-CATCACCCTCGTGGTTTCG-3'(SED ID NO.14)

[0053] The reaction s...

example 2

[0059] Example 2: Mutation Analysis

[0060] (1) DNA sequencing was performed on the PCR amplification products of the 5 normal persons and 4 ARCA patients.

[0061] (2) Analysis of sequencing results

[0062] The sequencing results were analyzed using SEQUENCE ANALYSIS software. Compare the discovered mutation sequence with the genome sequence, and conduct a comparative analysis of the sequencing results.

[0063] Sequencing analysis revealed:

[0064] (1) The 313th base C mutation in the PCR amplification product of 4 ARCA patients was T (SED ID NO.23), which was a homozygous mutation.

[0065] (2) 4 of the 5 normal subjects (two males and two females) had the heterozygous mutation shown in SED ID NO.23 in the PCR amplification product, and the above-mentioned mutation and other meaningful mutations were not found in 1 normal subject (SED ID NO. 24).

example 3

[0066] Example 3 CHIP gene mutation chro16: 671469 (hg18) A / T and chro16: 671521 (hg18) G / T detection method

[0067] There were 3 normal persons (2 males and 1 female) and 1 ARCA patient (1 male) in family B.

[0068] See Example 1 for basic methods and steps. In the specific method, PCR amplification is performed on the mutation site and adjacent sequences. The PCR primer sequences used are:

[0069] Forward primer; F: 5'-GACGGGCAGTCTGTGAAGG-3'(SED ID NO.13)

[0070] Reverse primer; R: 5'-CATCACCCTCGTGGTTTCG-3'(SED ID NO.14)

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Abstract

The invention discloses five mutant genes of a novel ARCA (autosomal recessive cerebellar ataxia) subtype disease-causing gene, and further discloses a recombinant vector comprising mutant CHIP (carboxyl terminus of Hsc70interacting protein) of the ARCA subtype disease-causing gene, a recombinant cell comprising the recombinant vector, encoding protein of the related genes of ARCA and a kit for detecting the mutant genes.

Description

technical field [0001] The invention belongs to the field of molecular pathology, and relates to a related gene CHIP (mutant) of an autosomal recessive cerebellar ataxia (autosomal recessive cerebellar ataxia, ARCA) subtype (hereinafter also referred to as "CHIP gene" or " STUB1 gene"). The invention also relates to a recombinant vector containing the mutant type of the autosomal recessive ataxia subtype-related gene, a recombinant cell containing the recombinant vector, and the encoded protein of the gene. Background technique [0002] Autosomal recessive cerebellar ataxia (ARCA) is a group of rare, highly clinically and genetically heterogeneous neurodegenerative disorders. Nearly 100 subtypes of ARCA have been found so far. The typical characteristic is that the onset of ARCA occurs before the age of 30, and the incidence rate is about 1 to 4 / 100,000 according to different races. Its clinical manifestations are diverse, and different subtypes have great differences. It ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/52C12N9/00C12Q1/68C12N15/63C12N5/10
Inventor 唐北沙王俊岭江泓夏昆李家大
Owner XIANGYA HOSPITAL CENT SOUTH UNIV
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