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Disseminated superficial actinic porokeratosis (DSAP) related gene

A kind of optical and genetic technology, applied in the field of molecular genetics, disease diagnosis and treatment, can solve the problems of unclear pathological relationship, huge psychological burden, affecting the appearance of patients, etc., and achieve the effect of effective diagnosis or treatment

Active Publication Date: 2013-07-17
THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At the same time, skin keratinization seriously affects the appearance of the patient, brings a lot of inconvenience to the life and work of the patient, and causes a huge psychological burden
In the past, linkage analysis methods were used to locate the regions associated with DSAP pathogenesis in the following five regions: 2q23.2-24.1, 12q24.1-q24.2, 15q25.1-26.1, 1p31.3-p31.1, 16q24 .1-24.3 (Table 1), however, the pathological relationship between gene defects and DSAP remains unclear

Method used

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  • Disseminated superficial actinic porokeratosis (DSAP) related gene
  • Disseminated superficial actinic porokeratosis (DSAP) related gene
  • Disseminated superficial actinic porokeratosis (DSAP) related gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1D

[0060] The identification of embodiment 1DSAP pathogenic gene

[0061] We found a four-generation DSAP family in Anhui Province, China (family 1, figure 1 a), two diseased individuals (I2, II4) and one non-diseased individual (II1) ( figure 1 a) The exome sequence was sequenced.

[0062] 1. DNA sample extraction

[0063] The peripheral blood of the subjects was collected, and the genomic DNA in the peripheral blood leukocytes was extracted using a FlexiGene DNA (commercially available, purchased from Qiagen, CA) kit.

[0064] 2. Exome sequence sequencing

[0065] Two diseased individuals (I2, II4) and one non-diseased individual (II1) ( figure 1 a) The exome sequence was sequenced. Exome sequencing methods are as follows:

[0066] 1) Randomly break the genomic DNA into fragments of about 150-200bp, and then connect adapters to both ends of the fragments to prepare a hybrid library (see the Illumina / Solexa standard library construction instructions provided by http: / / www....

Embodiment 2D

[0099] The verification of embodiment 2DSAP pathogenic gene

[0100] In order to further confirm that the MVK gene is the causative gene of DSAP, the Sanger sequencing method was used to detect the genes of another 57 family samples (from 7 families), 27 sporadic samples and 676 normal people outside the family, and verified the relationship between the MVK gene and DSAP. correlation between.

[0101] 1. DNA sample extraction

[0102] Peripheral venous blood from 57 pedigree samples, 27 sporadic samples and 676 normal persons outside the pedigree were collected, and genomic DNA was extracted according to the method in Example 1.

[0103] 2. Sanger sequencing verification

[0104] For the MVK gene (for the structure of the MVK gene, see figure 2 ) Design primers for all exons and exon-intron border regions, amplify by PCR, purify the product, use Sanger sequencing to obtain the MVK gene related sequences of all subjects in step 1, and determine according to the sequence det...

Embodiment 3

[0127] Example 3 Splice site mutation analysis

[0128] Studies of MVK gene splice site mutations using affected and non-affected individuals in pedigrees (see Figure 4 ), respectively, RNAiso Plus reagent (TaKaRa code: D9108A) and PrimeScript II 1st strand cDNA synthesis kit (TaKaRa code: D6210A) were used to extract fresh peripheral blood RNA from a diseased individual and a non-diseased individual in family 4 and reverse it to cDNA, exon 10 was amplified by PCR, followed by Sanger sequencing.

[0129] Primers were designed with reference to the human genome sequence database hg18 / build36.3. The specific sequences of the designed primers are shown in Table 5. The primer system, reaction conditions and purification steps are all known technologies.

[0130] Table 5. Primer sequences

[0131]

[0132] Figure 4 The gcatcccgggg marked in red in b becomes the coding sequence after the c.1039+2T>C mutation, causing a frameshift.

[0133] Conclusion: The site mutation (c...

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Abstract

A DSAP related pathogenic gene MVK gene is identified in the invention. The invention provides a mutant TRPV3 gene, a protein coded thereby, a use of the mutant TRPV3 gene, a mutant TRPV3 gene vector, a host cell comprising the mutant TRPV3 gene and / or the vector, and a kit comprising the mutant TRPV3 gene, and / or the vector, and / or the host cell. The invention also provides a method used for diagnosing or treating DSAP, a diagnosis agent or a treatment agent used for the method, and a kit containing the diagnosis agent or the treatment agent.

Description

technical field [0001] The invention relates to the fields of molecular genetics and disease diagnosis and treatment. In particular, the present invention identifies the causative gene-MVK gene associated with diffuse superficial actinic porokeratosis (DSAP). On this basis, the present invention provides a mutated MVK gene, its encoded protein and its application, a vector containing the mutated MVK gene, a host cell and a kit. In addition, the present invention also provides a method for diagnosing or treating DSAP, a diagnostic or therapeutic agent for the method, and a kit comprising the diagnostic or therapeutic agent. Background technique [0002] Porokeratosis (PK) is a rare skin keratosis. As early as 1893, Mibelli made a detailed clinical report on the disease. So far, there are 5 typical porokeratosis clinically. Subtypes of keratosis: classic Mibelli porokeratosis (PM); diffuse superficial porokeratosis (DSP); diffuse superficial actinic porokeratosis (Disseminat...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12N15/63C12N5/10C12N1/15C12N1/19C12N1/21C07K14/47C12Q1/68A01K67/00A61K39/395A61K48/00A61P17/00
Inventor 张学军蒋涛杨森孙良丹左先波王俊汪建杨焕明
Owner THE FIRST AFFILIATED HOSPITAL OF ANHUI MEDICAL UNIV
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