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Detection kit for mutation of pathogenic genes, susceptibility genes and possibly-related genes of autism

A technology of causative genes and susceptibility genes, applied in the detection kits for susceptibility genes and possible related gene variants, and the field of autism causative genes, which can solve the problems of huge data volume, high sequencing cost, high cost, etc.

Active Publication Date: 2017-04-26
天津中科安迪生物科技发展有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Such a high cost is unaffordable for ordinary families; high-throughput sequencing can sequence the entire human genome, but the size of the human genome is about 3Gb, and a total of about 90Gb of sequencing data is required for whole genome sequencing, which is a huge amount of data High sequencing cost (about 10,000 RMB)

Method used

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  • Detection kit for mutation of pathogenic genes, susceptibility genes and possibly-related genes of autism
  • Detection kit for mutation of pathogenic genes, susceptibility genes and possibly-related genes of autism
  • Detection kit for mutation of pathogenic genes, susceptibility genes and possibly-related genes of autism

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preparation example Construction

[0035] The present invention also provides a method for preparing probes in the RNA probe set, preferably comprising the following steps:

[0036] 1) For the coding sequence of the gene, from the 5' to the 3' direction, according to the principle of sequence reverse complementarity, design a probe sequence with a length of 110-130bp from the first base, and every two adjacent probe sequences There is a 50-70bp overlap between the needle sequences;

[0037] 2) At the 5' end and 3' end of each probe sequence, add a primer with a sequence of Seq ID No291 and a primer with a sequence of Seq ID No292 respectively to form a list of probe sets with the same sequence at both ends;

[0038] 3) Using oligonucleotide in situ synthesis technology to perform large-scale synthesis of oligonucleotides on the chip to the sequences in the above-mentioned probe set sequence list;

[0039] 4) eluting the oligonucleotides on the chip to form an oligonucleotide mixture;

[0040] 5) using the oligo...

Embodiment 1

[0130] Screening of autism pathogenic genes, susceptibility genes and possible related genes

[0131] By investigating all the papers on the genetics of autism on the medical literature retrieval service system PUBMED so far, 2 pathogenic genes (Table 5) and 2 susceptibility genes (Table 5) related to autism were identified. Through the whole exome sequencing of the largest autism family in the world, the gene functions of new mutations and rare genetic mutations in autism patients were analyzed, and a total of 2 genes related to gene function and brain and neurodevelopment were screened out. , respectively BSDC1 and DLG2.

[0132] Table 5 List of 6 genes related to autism

[0133]

[0134]

[0135] Probe set design and preparation

[0136] According to the above 6 gene sequences (HG19 version), those skilled in the art can design and synthesize probe sequences by known and general methods. In this example, the synthesized probe sequences were amplified, in vitro trans...

Embodiment 2

[0159] The kit for detecting autism-causing genes, susceptibility genes, and possible related gene variations described in this example can be used for molecular genetic diagnosis of autistic individuals, and for parents and parents of autistic patients. Risk assessment of relatives for having a child with autism.

[0160] Take 1 μg of human genomic DNA, and randomly fragment it into small fragments of 150-250 bp using an ultrasonic breaker Bioruptor pico;

[0161] Pre-capture small fragment library preparation was performed using the Illumina TruSeq DNA Library Prep Kit.

[0162] Take 750ng of the small fragment library constructed in step 2, mix with 11 μl of blocking buffer, and concentrate to 9 μl in a vacuum concentrator centrifuge.

[0163] Melt the hybridization buffer at room temperature, mix well and place it in a 65°C water bath to preheat, take it out and mix once during the preheating period. Aliquot into PCR tubes, 20μl per tube.

[0164] Add 2 μl probe to 5 μl...

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Abstract

The invention provides a detection kit for mutation of pathogenic genes, susceptibility genes and possibly-related genes of autism. The detection kit is characterized by comprising a RNA probe set, primers, a blocking buffer solution, a RNA enzyme blocking solution, a hybrid buffer solution, a binding buffer solution, a SSC rinsing solution with one unit concentration, a SSC rinsing solution with 0.1 unit concentration, a PCR reaction solution and a TE buffer solution, wherein the RNA probe set comprises 282 RNA probes, and the sequences of the RNA probes are as shown in SEQ ID No. 1 to SEQ ID No. 282. The detection kit for detecting the pathogenic genes, susceptibility genes and possibly-related genes of autism in the invention can simultaneously detect six pathogenic / susceptibility genes related to autism, and is applicable to molecular genetic diagnosis of individual patients with autism and to risk prediction of neonatal autism when parents of a patient of autism give birth to another child.

Description

technical field [0001] The invention relates to the field of gene variation detection, in particular to a detection kit for autism-causing gene, susceptibility gene and possibly related gene variation. Background technique [0002] Autism, also known as autism or autistic disorder, is a representative disease of pervasive developmental disorder (PDD). Autism has major health consequences. Research on families with autistic patients found that the prevalence rate of siblings with autism in children is 2% to 8%, which is 50 to 200 times that of the general population. Twin studies have shown that the concordance rate of identical twins is 60%, and the concordance rate of fraternal twins is 0. These evidences prove that genetic factors play an important role in the onset of autism in children. [0003] At present, the diagnosis of autism in the world mainly relies on the Autism Behavior Checklist (ABC), the Childhood Autism Rating Scale (CARS), the Autism Diagnostic Observat...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 滕花景梁加龙李津臣孙中生
Owner 天津中科安迪生物科技发展有限公司
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