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Polymorphism of 11th exon in DYRK1A gene

A technology of the eleventh exon, which is applied in the field of single nucleotide polymorphism, and can solve the problem of the absence of the polymorphism of the eleventh exon of the DYRK1A gene

Inactive Publication Date: 2004-08-11
CHINESE NAT HUMAN GENOME CENT AT SHANGHAI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Before this application, there was no related report on the polymorphism of exon 11 of DYRK1A gene

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0025] Gene extraction and sequencing

[0026] DNA was extracted from human blood by the conventional phenol-chloroform method, and the concentration was corrected to 20ng / ul for conventional PCR amplification. Primers are:

[0027] Sense primer: 5'-tgtcatggct tttgatggaa g-3' (SEQ ID NO: 3)

[0028] Antisense primer: 5'-gattctggta ggcctgattg c-3' (SEQ ID NO: 4)

[0029] The amplified 452bp product was purified and subjected to DNA sequencing.

Embodiment 2

[0031] SNP acquisition

[0032] Direct sequencing of the DYRK1A gene. The measured sequences of each sample are compared to obtain sequence differences and obtain SNPs.

Embodiment 3

[0034] Detection kit

[0035] Prepare a detection kit for detecting the susceptibility of DYRK1A gene-related diseases, which contains the following primer pairs that can amplify 255 SNPs:

[0036] Sense primer: 5'-tgtcatggct tttgatggaa g-3' (SEQ ID NO: 3)

[0037] Antisense primer: 5'-gattctggta ggcctgattg c-3' (SEQ ID NO: 4)

[0038] The chromatographic analysis of the amplified product and the normal control is performed with a denaturing high-performance liquid chromatograph (DHPLC), and the T->A type SNP at position 255 can be easily detected.

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PUM

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Abstract

A single nucleotide polymorphism (SNP) for the extron No.11 of DYRK1A gene and a method for analyzing the SNP and activity of said extron No.11 are disclosed. Said SNP is T->A polymorphism at the site No.255 in its sequence shown by SEQ ID No.1 and can cause the change Leu(L)->His(H) at the site No.60 of coding protein, so changing protein activity.

Description

technical field [0001] The invention relates to the single nucleotide polymorphism of the eleventh exon of DYRK1A gene. The invention also relates to a method for analyzing the allelic mutation of the eleventh exon of the DYRK1A gene. Background technique [0002] The DYRK1A gene, the dual-specificity tyrosine phosphorylation-regulated kinase 1A gene (DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A), encodes a serine-threonine kinase. The researchers believe that the kinase may be related to the proliferation of neuroblasts and play a key role in the pathogenesis of intellectual disability. (Hum Mol Genet 2001 Sep 1;10(18):1915-23). [0003] Before this application, there was no relevant report on the polymorphism of exon 11 of DYRK1A gene. Contents of the invention [0004] The purpose of the present invention is to provide the polymorphism of exon 11 of DYRK1A gene and its detection method. [0005] In the first aspect of the present invention, there is...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C07H21/00C12N15/11C12P19/34C12Q1/68
Inventor 黄薇施锦绣奚慧峰金力
Owner CHINESE NAT HUMAN GENOME CENT AT SHANGHAI