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Application of single nucleotide polymorphism site rs2523607 to screening of patients suffering from dermatitis herpetiformis

A single nucleotide polymorphism and polymorphism technology, applied in the biological field, can solve problems such as predicting the risk of DH and not providing detection methods

Inactive Publication Date: 2017-10-27
SHANDONG PROVINCIAL INST OF DERMATOLOGY & VENEREOLOGY
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

So far, there is only one genetic study on DH in the Chinese population, which found that HLA-B*0801 and HLA-DRB1*0301 may be risk factors related to dermatitis herpetiformis, but did not provide a reliable detection method to predict the risk of DH sex

Method used

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  • Application of single nucleotide polymorphism site rs2523607 to screening of patients suffering from dermatitis herpetiformis
  • Application of single nucleotide polymorphism site rs2523607 to screening of patients suffering from dermatitis herpetiformis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0064] Example 1, rs2523607 is a single nucleotide polymorphism associated with dermatitis herpetiformis

[0065] research object

[0066] In the discovery phase of Genome-wide association study (GWAS), the research subjects included 24 patients with dermatitis herpetiformis (DH patients) and 480 normal controls, and in the validation phase, 12 patients with dermatitis herpetiformis (DH patients) and 244 Example of normal control. All study subjects were from the Chinese population.

[0067] All patients with herpetiform dermatitis in the case group met the following three criteria: 1) Clinical features: clustered vesicles on the basis of erythema; 2) Immunological examinations, including direct immunofluorescence of skin biopsy tissue and indirect immunofluorescence of plasma samples, confirmed that it was 3) ELISA analysis confirmed that it was a patient with dermatitis herpetiformis.

[0068] Control group All normal controls were clinically proven to be free of autoimmu...

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Abstract

The invention discloses application of single nucleotide polymorphism site rs2523607 to screening of patients suffering from dermatitis herpetiformis. A technical scheme protected by the invention is characterized in that application of a substance for detecting polymorphism or a gene type of the rs2523607 in a human genome to preparation of a product for screening the patients suffering from the dermatitis herpetiformis and application of the substance for detecting the polymorphism or the gene type of the rs2523607 in the human genome to preparation of a product for detecting single nucleotide polymorphism relevant to the dermatitis herpetiformis are provided. The substance for detecting the polymorphism or the gene type of the rs2523607 and other substances (for example, substances for detecting other single nucleotide polymorphism or gene types relevant to the dermatitis herpetiformis) are combined together to screen the patients suffering from dermatitis herpetiformis.

Description

technical field [0001] The invention relates to the application of single nucleotide polymorphism site rs2523607 in screening patients with herpetiform dermatitis in the field of biotechnology. Background technique [0002] Dermatitis herpetiformis (DH) is a rare autoimmune bullous skin disease caused by gluten ingestion, which is characterized by itchy polymorphic lesions and IgA deposition in the dermal papillae. Recently, DH has been considered a specific cutaneous manifestation of celiac disease because of the presence of circulating IgA antibodies, epidermal transglutaminase antibodies, and typical histologic features similar to small intestinal villous atrophy in DH patients. The incidence and prevalence of DH vary in different populations. Among them, DH is more common in Caucasians, but rare in Asian populations. For people of Chinese ancestry, only a few sporadic cases have been reported in mainland China, Hong Kong and Singapore. [0003] The heritability of DH ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 张福仁刘红孙勇虎
Owner SHANDONG PROVINCIAL INST OF DERMATOLOGY & VENEREOLOGY
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