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
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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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 samp

Method used

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  • 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...

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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

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Application Information

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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
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