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Mutation site of intellectual disability disease-related ATRX gene and detection kit

A detection kit and mutation site technology, which can be used in the determination/examination of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc., can solve the problems of the small number of ID patients reported and the lack of ATRX gene intron mutation, etc. achieve the effect of reducing the program

Active Publication Date: 2021-07-23
义乌市妇幼保健院
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Existing studies have found more than 700 genes related to ID, including the ATRX gene, but in general, the number of ID patients with ATRX gene mutations is still relatively small, and mainly exon mutations, there is no ATRX Related reports on gene intron mutation

Method used

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  • Mutation site of intellectual disability disease-related ATRX gene and detection kit
  • Mutation site of intellectual disability disease-related ATRX gene and detection kit
  • Mutation site of intellectual disability disease-related ATRX gene and detection kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0049] The first step is to get the sample;

[0050] 1 case of children, male, 3 years old, clinical manifestations are slow developmental delay, language development slow, severe intelligence disorder, and abnormal face. Genetic metabolism, head MRI, EEG, and Anemia, no anemia. The current episracothelings, pursue the slowness, temporarily, and unconsciously pronunciation, the hands of the hands are not good, the vertical, not take the initiative, the double lower limbs are not good, will not help the station, The muscle strength is 4, the muscle tension is low, and the gastrointestinal function is abnormal. Dueinning: brain is paralyzed.

[0051] All housekeeping members participating in the present invention have signed informed consent, obtain peripheral blood of patients and related families.

[0052] Step 2, all genome sequencing;

[0053] This implementation adopts all genome sequencing techniques, including peripheral blood samples, all genome DNA extraction, DNA fragmenta...

Embodiment 2

[0076] This embodiment provides an auxiliary diagnostic intellectual disorder DNA detection kit and a mRNA detection kit.

[0077] Among them, the DNA detection kit includes an amplified primer of an ATRX gene mutation site in Example 1. The amplification primer of the mutant site comprises an upstream primer and a downstream primer, an upstream primer nucleotide sequence such as SEQ ID NO: 2 shows that the nucleotide sequence of the downstream primer is shown in SEQ ID NO: 3, and the Synthesis of the French Biological Engineering (Shanghai) Co., Ltd.

[0078] The DNA detection kit further includes a PCR reagent, a PCR product purification reagent, a Sanger sequencing reagent.

[0079] Wherein, the PCR reagent is KAPA2G Robμst HotStart PCR Kit A kit comprising: 5X KAPA2GBuffer A / 5X KAPA2G Buffer B / 5X KAPA2G GC Buffer, 5X KAPA Enhancer 1,10mM KAPAdNTP Mix, 5U / μL KAPA2G Robust HotStar DNA Polymerase, PCR-grade Water. The concentration of each component in the PCR system is: 1x...

Embodiment 3

[0170] This embodiment provides a mRNA, which is obtained by transcription of mutant ATRX gene in Example 1. The mRNA exists as the lack of exon7, exon9 and exon24 mentioned in Example 2 described above;

[0171] Among them, EXO7 is missing (AGA);

[0172] EXON9 lack

[0173] AttaaatcaaaaActacagctaaAgtaAcaaaagaattatattttaACTCACTCCCCCCCAATTAAAAATTCCCCAATTAAAAAAATTCCCCAATTAAAAAAAATTCCCCAATTAAAAAATTCCCCAATTAAAAGGT

[0174] EXON24 lacks the entire exon.

[0175] The experiment verified that an abnormal mRNA in an ATRX gene was abnormal, and the pathogenicity of the mutation was clarified, revealing the pathogenesis of intellectual disorders caused by the mutation.

[0176] Next, the length of the nucleotide sequence involved in the above-mentioned first to third embodiments and the length of the amplification product corresponding to the obtained amplification product is shown in the following table:

[0177]

[0178]

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Abstract

The invention provides a mutation site of intellectual disability disease-related ATRX gene. The mutation site is located in a No.24 intron of the ATRX gene, and the mutation information of the mutation site is c.5786 + 4 (IVS24) A > G (NM_000489.6); Meanwhile, the invention further provides a DNA detection kit and an mRNA detection kit which are used for auxiliary diagnosis of the intellectual disorder disease, the DNA detection kit is used for detecting the mutation site, the mRNA detection kit is used for detecting mRNA transcribed by the mutant ATRX gene, one-generation sequencing can be directly carried out, the mutation site in the first aspect and the mRNA obtained by ATRX gene transcription are detected, the mutation pathogenicity is clarified, the pathogenesis of the intellectual disability caused by the mutation is revealed, and the method can be used for precise diagnosis of the ATRX gene-related intellectual disability diseases.

Description

Technical field [0001] The present invention relates to the field of biotechnology, and more particularly, the present invention relates to a mutation site and a detection kit of an ATRX gene associated with an intellectual disorder disease. Background technique [0002] Intellectual Disability (ID) disease refers to the patient's cognitive function and social adaptability before the age of 18, which is characterized by intellectual test IQ values ​​less than 70. The clinical phenotype of ID, which is both intellectual disorders, may also accompany the congenital malformation or other nervous system such as autism spectrumdisorder, asd, epilepsy. The incidence of ID is about 1 to 3% over a global scale. According to relevant research reports, a mental medical cost of a mentally disorder can reach $ 1 million. IDs are mainly divided into genetic factors and non-genetic factors, and genetic factors account for about 2 / 3, which can be seen, and the clinical phenotype of IDs is compl...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/158
Inventor 吴轲丛研
Owner 义乌市妇幼保健院
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