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

Identification method for genetic disease-related gene

A technology for hereditary diseases and identification methods, which can be used in the determination/inspection of microorganisms, biochemical equipment and methods, etc., and can solve the problems of high cost and unfavorable large-scale application of technology.

Active Publication Date: 2011-10-05
BGI SHENZHEN CO LTD +1
View PDF2 Cites 16 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0010] However, the method of using human genome exon capture technology to discover disease-causing genes also has its shortcomings and shortcomings. For example, each sample needs to be detected by exon sequence capture chips and Solexa high-throughput sequencing, which requires high costs. Facilitate large-scale application of the technology

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
  • Identification method for genetic disease-related gene
  • Identification method for genetic disease-related gene
  • Identification method for genetic disease-related gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0058] Example 1 Chromosomal Mapping of SCA Family Related Genes

[0059] Hereditary spinocerebellar ataxias (hereditary spinocerebellar ataxias, SCAs) is a group of neurodegenerative diseases 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 feature, and it can also be accompanied by oculomotor disturbance, slow eye movement, optic atrophy, retinitis pigmentosa, pyramidal tract signs, extrapyramidal system manifestations, and musculoskeletal syndrome. atrophy, peripheral neuropathy, and dementia. The incidence rate is about 5-7 / 100,000. The pathogenesis of the disease is not completely clear, and there is no effective treatment at present.

[0060] With the development of molecular genetics research, a total of 31 positioning sites have been found in SCA, and 19 disease-causing genes have been clone...

Embodiment 2

[0072]Example 2 Using human genome exon capture technology to capture the SCA family-related genes

[0073] On the basis of the mapping, the inventors successfully cloned a new SCA-related gene-transglutaminase 6 (TGM6) gene mutant within the mapping interval by using the human genome exon capture technology. The specific operation steps are as follows:

[0074] 1) Take the genomic DNA of a patient in the SCA family;

[0075] 2) Use ultrasound to randomly interrupt peripheral blood DNA to a fragment size of 200-300bp;

[0076] 3) Add "joints" at both ends of the interrupted DNA fragment;

[0077] 4) Hybridize the adapter-added DNA fragments with Nimblegen's chip HD2.1array for 72 hours (see the instructions for the specific operation method);

[0078] 5) amplifying the DNA fragments eluted after hybridization;

[0079] 6) Purify the amplification product;

[0080] 7) The amplified product was sequenced using the sequencer GA II of Illumina Company.

[0081] The above DNA...

Embodiment 3

[0091] Embodiment 3PCR detects whether the T1550G mutation occurs in the TGM6 gene

[0092] The genes related to hereditary spinocerebellar ataxia were detected in the genomes of 9 SCA patients, 18 normal persons and 3 persons with unclear clinical diagnosis in the family described in Example 1, amplified by PCR, and the products were purified , The sequencing method is used to obtain the sequence of exon 10 of the hereditary spinocerebellar ataxia-related gene. According to the sequence determination result, it belongs to the mutant hereditary spinocerebellar ataxia-related gene or the wild-type hereditary spinocerebellar ataxia Related genes, to verify the correlation between hereditary spinocerebellar ataxia related genes and SCA. The specific method steps are as follows:

[0093] 1) DNA extraction:

[0094] The peripheral venous blood of 9 SCA patients, 18 normal people and 3 patients with unclear clinical diagnosis was collected respectively, 5 mL per person, anticoagul...

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 relates to an identification method for a genetic disease-related gene, comprising the following steps: 1) obtaining a sample of DNA in genetic disease gene family; 2) carrying out preliminary positioning of chromosomes of related genes; 3) optionally, further carrying out accurate positioning and haplotype analysis of the chromosomes of the related genes; 4) according to chromosomal localization results, taking a certain amount of DNA samples and identifying the related genes with the technology of human genome exome sequencing. The invention also relates to an identification method for related genes of hereditary spinocerebellar ataxia and a kit for the analysis of the related genes of hereditary spinocerebellar ataxia.

Description

technical field [0001] The invention belongs to genetics and molecular biology, and specifically relates to an identification method of genetic disease-causing genes, in particular to an identification method of genes related to hereditary spinocerebellar ataxia. Background technique [0002] The traditional methods for locating the causative gene of a monogenic hereditary disease are: [0003] 1) Collect family samples, extract the genomic DNA of each sample, and conduct whole-genome scanning and linkage analysis to initially locate the causative gene; [0004] 2) Next, perform fine positioning and construct a haplotype map to determine the chromosomal location of the disease-causing gene; [0005] 3) Bioinformatics analysis is performed on the genes in the chromosome location zone of the pathogenic gene to determine the location candidate genes; [0006] 4) Finally, mutation screening is performed on the positional candidate genes to find the causative genes that co-segr...

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): C12Q1/68
Inventor 张朋苏政金鑫唐北沙王俊岭翁翎
Owner BGI SHENZHEN CO LTD
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