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A method for assessing the risk of Down syndrome based on m6A methylation modification of nrip1 mRNA and its application

A Down syndrome and methylation technology, applied in the field of biomedicine, can solve the problem that the mechanism of expression increase is not very clear, and achieve the effect of reducing mRNA attenuation

Active Publication Date: 2021-08-24
时伟丽 +1
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

The expression of NRIP1 is abnormally increased in the cerebral cortex of Down syndrome embryos, but the degree of increase cannot be explained by gene dosage effects, and the mechanism of its increased expression in DS is still not very clear

Method used

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  • A method for assessing the risk of Down syndrome based on m6A methylation modification of nrip1 mRNA and its application
  • A method for assessing the risk of Down syndrome based on m6A methylation modification of nrip1 mRNA and its application
  • A method for assessing the risk of Down syndrome based on m6A methylation modification of nrip1 mRNA and its application

Examples

Experimental program
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Embodiment

[0053] This example is to explore the changes of m6A methylation modification mediated by METTL3 in the cerebral cortex of patients with Down syndrome and the impact on abnormally expressed NRIP1 in the brain of Down syndrome.

[0054] 1. Experimental method

[0055] 1. MeRIP-seq: Co-immunoprecipitation of RNA fragments with m6A modification in cerebral cortex tissue by m6A-specific antibody, followed by high-throughput sequencing, combined with bioinformatics analysis, systematically performed m6A modification in the transcriptome range Analysis, the specific method is as follows:

[0056] Tissue RNA was extracted using PureLinkRNA Mini Kit (Invitrogen), and the concentration, purity and integrity of RNA were detected. Add fragmentation buffer, treat at 94°C for 5min, and add 0.5M EDTA to fragment the RNA. RNA was extracted with 3M sodium hypochlorite (pH 5.2) and 100% ethanol, and the fragment size was identified. Take 1% fragmented RNA as input control. The remaining fr...

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Abstract

The invention discloses a method for assessing the risk of Down's syndrome based on m6A methylation modification of NRIP1 mRNA and its application. The method of the present invention comprises: the step of measuring the m6A methylation modification level of NRIP1 mRNA in the tissue sample of the subject to obtain the measured value; the step of comparing the measured value with the control value; judging the differential modification of m6A methylation Relationship with higher or lower risk of Down syndrome. The invention can be effectively used for the screening of Down's syndrome.

Description

technical field [0001] The invention belongs to the field of biomedical technology, and in particular relates to a method for assessing the risk of Down's syndrome based on the m6A methylation modification of NRIP1 mRNA and its application. Background technique [0002] Down syndrome (Down Syndrome, DS), also known as 21-trisomy syndrome (OMIM#190685), is a chromosomal aneuploidy disease caused by the extra duplication of chromosome 21 in whole or in part. One of the most common genetic disorders of intellectual disability. Patients with Down syndrome have different degrees of cognitive impairment phenotype, manifested as mild, moderate, or even severe intellectual disability. Despite years of research, its exact mechanism is not fully understood. [0003] Worldwide, the incidence of DS is about 1 / 1000-1 / 500 of live births. In my country, the incidence rate among newborns is about 1 / 800~1 / 600. The report on the prevention and treatment of birth defects in China (2012) sh...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/154
Inventor 时伟丽杨帆
Owner 时伟丽
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