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Gene diagnosis reagent kit for detecting adults progeria syndrome

A syndrome and kit technology, which is applied in the field of kits for the detection of WRN gene 2806insA mutation, can solve problems such as not seen, and achieve the effect of simple method, low cost, and direct detection results

Inactive Publication Date: 2011-07-27
BEIJING NEUROSURGICAL INST +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] After searching the existing domestic and foreign literature, there is no report on the 2806insA mutation of the WRN gene in Werner syndrome. The discovery of the WRN gene in the Chinese population will not only promote the development of basic research on the pathogenesis of the disease, but will also greatly promote the development of Werner syndrome. The development of genetic diagnosis and treatment

Method used

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  • Gene diagnosis reagent kit for detecting adults progeria syndrome
  • Gene diagnosis reagent kit for detecting adults progeria syndrome
  • Gene diagnosis reagent kit for detecting adults progeria syndrome

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0034] Example 1: Detection method for WRN gene 2806 heterozygous mutation

[0035] 1. Research object

[0036] Meningioma patients were collected through the neurosurgery outpatient clinic. On the premise that the patients and their family members signed the informed consent, 5-10ml blood samples were collected, and the inpatient medical record database was established to record the patient's condition, family history and contact information in detail. This study has been approved by the institutional ethics committee.

[0037] 2. Preparation of Genomic DNA

[0038] first day

[0039] 1. In the presence of the anticoagulant EDTA, centrifuge the collected 5-10ml human peripheral blood at 2500rpm for 30 minutes to remove serum;

[0040] 2. Add 0.2% NaCl solution to bring the total volume to 50 ml. Gently shake the solution 5-6 times and place it on ice for 15 minutes;

[0041] 3. Centrifuge at 2500rpm for 30 minutes to collect the precipitate;

[0042] 4. Wash with 0.2% N...

Embodiment 2

[0064] Example 2: Kit for the detection of WRN gene 2806 heterozygous mutation

[0065] 1. Components: Contains a pair of primers capable of amplifying the 2806 heterozygous mutation site of the WRN gene, and corresponding reagents for sequencing. The components and contents are as follows, and stored at -20°C:

[0066] 20ul 10X PCR buffer (Pharmacia),

[0067] 4ul 10mM dNTP mixture (Pharmacia),

[0068] 2ul (5unit / ul) Taq DNA polymerase (Takara),

[0069] Each 10ul (10pmol / ul) F1 (SEQ ID NO.1) and R1 (SEQ ID NO.2) primers (self-made),

[0070] 1.5ml pure water (homemade).

[0071] Two. the using method of described test kit mainly comprises the following steps:

[0072] (1) Extract the DNA of the blood sample to be tested, and use a pair of WRN2806-F and WRN2806-R primers shown in the sequence table SEQ ID No.1 and SEQ ID No.2 to carry out PCR amplification reaction;

[0073] (2) The PCR reaction product was directly sequenced after purification, and the obtained sequenc...

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Abstract

The invention discloses a genetic diagnosis kit which detects the early-aging syndromes of adults and belongs to the biotechnical field. A method which diagnoses the early-aging syndromes of the adults includes the following steps of: (1) gathering the blood, body fluid or tissue samples of individuals to be tested and extracting the DNA; (2) taking the DNA as a template and carrying out PRC reaction to PRC primers which are designed in accordance with the mutation sites of WRN genes to obtain products of the PRC reaction; (3) carrying out sequencing analysis to the obtained PRC products and comparing the obtained sample sequences with normal genetic sequences to determine whether mutation exists; and (4) judging whether the individuals to be tested have the early-aging syndromes caused by the mutation of the WRN genes according to the results. The invention has the advantages of providing the mutation of the WRN genes among the Chinese population for the first time and showing the correlation between the mutated genes and WS symptoms. The detection method is simple and low in cost, with direct and reliable results, and can be applied to the large-scale screening and diagnosis of the 2806insA mutation of WRN genes of Werner syndrome.

Description

technical field [0001] The present invention relates to a gene diagnosis kit for detecting adult progeria syndrome, more specifically a kit for detecting mutation of WRN gene 2806insA, the kit and method can be used for auxiliary diagnosis and new drug development of the disease, Belongs to the field of biotechnology. Background technique [0002] Werner syndrome (Werner syndrome, WS), also known as adult progeria (Adult progeria), adult premature aging syndrome (Adult premature aging syndrome), is a rare autosomal recessive genetic disease. The clinical manifestations of WS mainly occur in connective tissue, endocrine system, immune system, nervous system, etc. Including: short stature, premature hair growth, skin fibrosis, scleroderma, cataract, subcutaneous tissue calcification, diabetes, hypothyroidism, hyperlipidemia, systemic lupus erythematosus, dementia, schizophrenia, etc. The development of WS patients is basically normal in childhood, and various symptoms begin ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68
Inventor 郝淑煜张力伟张俊廷吴震王忠诚
Owner BEIJING NEUROSURGICAL INST
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