Application of single nucleotide polymorphic rs3888722 in screening pemphigus foliaceus patients

A single nucleotide polymorphism and pemphigus technology, which is applied in the determination/testing of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc., and can solve the problem of not finding genetic risk factors

Active Publication Date: 2017-03-22
SHANDONG PROVINCIAL INST OF DERMATOLOGY & VENEREOLOGY
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, the study did not identify any genetic risk factors except for a strong association signal in the HLA class II molecular region

Method used

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  • Application of single nucleotide polymorphic rs3888722 in screening pemphigus foliaceus patients
  • Application of single nucleotide polymorphic rs3888722 in screening pemphigus foliaceus patients
  • Application of single nucleotide polymorphic rs3888722 in screening pemphigus foliaceus patients

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0071] Example 1, rs2178077 and rs3888722 are single nucleotide polymorphisms associated with pemphigus foliaceus

[0072] research object

[0073] The research subjects in the discovery phase of Genome-wide association study (GWAS) included 166 patients with pemphigus (101 cases of pemphigus vulgaris (PV), 65 cases of pemphigus foliaceus (PF)) and 885 patients with pemphigus foliaceus (PF). Normal control (CK). The subjects in the SNP validation phase were 156 pemphigus patients (PV 86, PF 70) and 996 normal controls (CK). The joint analysis included 369 pemphigus patients (PV 210, PF 159) and 2493 normal controls (CK). All study subjects were from the Chinese population.

[0074] The diagnosis of all pemphigus patients meets the following 4 criteria: 1) clinical features: vesicles and bullae on the basis of erythema, negative Niles sign; 2) typical history of pemphigus vulgaris or pemphigus foliaceus; 3 ) Immunological examination including direct immunofluorescence of s...

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Abstract

The invention discloses an application of single nucleotide polymorphic rs3888722 in screening pemphigus foliaceus patients. The technical scheme of the invention relates to an application of a substance for detecting the polymorphism or genotype of rs3888722 in human genome in preparing a product for screening pemphigus foliaceus patients and an application of a substance for detecting the polymorphism or genotype of rs3888722 in human genome in preparing a product for detecting the single nucleotide polymorphism related to pemphigus foliaceus. The substance for detecting the polymorphism or genotype of rs3888722 can be combined with other substances (including the substance for detecting other single nucleotide polymorphism or genotype related to pemphigus foliaceus) to prepare a product for screening pemphigus foliaceus patients.

Description

technical field [0001] The invention relates to the application of single nucleotide polymorphism rs3888722 in screening pemphigus foliaceus patients in the field of biotechnology. Background technique [0002] Pemphigus is a rare, life-threatening autoimmune bullous skin disease (Stanley, 1989; Nousari and Anhalt, 1999) characterized by the presence of autoantibodies against keratinocyte adhesion molecules and the absence of keratinocytes. Form the adhesion function between cells. The incidence of pemphigus is 0.76-6.7 per million person-times per year, with differences among different races and regions (Ahmed et al., 1990; Bystryn and Rudolph, 2005; Meyer and Misery, 2010). Although the disease is currently treated with long-term systemic administration of glucocorticoids and immunosuppressants (Loiseau et al., 2000), the mortality rate due to pemphigus in the United States is close to 10% (Lombardi et al., 1996 ), and the current treatment options have significant side ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 张福仁
Owner SHANDONG PROVINCIAL INST OF DERMATOLOGY & VENEREOLOGY
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