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Kit for detecting fragile X syndrome

A kit and syndrome technology, which is applied in the field of kits for detecting Fragile X syndrome in clinical samples, can solve the problems of low accuracy, long time, and complicated steps.

Active Publication Date: 2013-09-25
DAAN GENE CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At the same time, because the phenotype of female pre-mutation carriers has no obvious abnormalities, it is easy to be ignored, and the mutation gene continues to expand during the transmission process, resulting in an increasing risk of disease from generation to generation
At present, various screening methods in clinical practice have low accuracy, long time, cumbersome steps and high cost.

Method used

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  • Kit for detecting fragile X syndrome
  • Kit for detecting fragile X syndrome
  • Kit for detecting fragile X syndrome

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0039] Embodiment 1: detection kit and its use

[0040] (1) Prepare a kit including the following components: 1 tube of PCR reaction solution (800 μl / tube), 1 tube of primer mix (200 μl / tube), 1 tube of Taq enzyme (25 μl / tube), 2 standard products of fragile X syndrome tube (25ul / tube), negative control 1 tube (25μl / tube).

[0041] (2) Specimen collection, transportation and storage:

[0042] 1. Specimen collection: The specimens are blood, amniotic fluid, and villi tissue. The blood is 2ml of venous blood or 0.5-1ml of fetal umbilical cord blood, which is anticoagulated with EDTA; 2-5ml of amniotic fluid or two pieces of villous tissue are obtained by puncture.

[0043] 2. Storage: It can be detected immediately, stored at 4°C for one week, and stored at -20°C for one year.

[0044] 3. Transportation: Specimens should be transported using 0°C curling.

[0045] (3) Detection steps and result analysis:

[0046] 1. DNA extraction

[0047] The Qiagen DNA extraction kit is r...

Embodiment 2

[0059] Example 2: Detection of Fragile X Syndrome by Bisulfite Modification-Long Fragment PCR Amplification of Fragile X Fragment

[0060] A total of 6 blood samples, amniotic fluid or villi tissues from donors were used for DNA extraction and purification according to the standard procedure of Qiagen DNA extraction kit. The extracted DNA was then subjected to bisulfite modification using the EZ DNA Methylation-Gold kit. Amplify the modified DNA with the primer mixture provided in this kit, PCR buffer system and Taq enzyme according to the detection procedures of the kit, and load the sample for analysis. For the steps, see Example 1 for details. The analysis spectrum of the sample loading results is as follows: Figure 1A , Figure 1B , Figure 2A , Figure 2B , Figure 2C , Figure 2D shown. in Figure 1A , Figure 1B Electropherograms for normal males and normal females. When the sample is a pre-fragile X mutation, there is only one amplified product in males, and t...

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Abstract

The invention relates to a kit for detecting the fragile X syndrome in a clinical sample, in particular to a kit for screening the fragile X syndrome through the technology of hydrosulfite-modified long fragment polymerase chain reaction. The extended range of the kit can contain the fragile X syndromes of all the normal persons, patients with fragile X syndrome premutation and part of patients with fragile X syndrome full mutation. The kit is characterized by short analysis time, high flux and less required cells, and can be used to analyze the DNAs of father and mother and can also be used in the embryo preimplantation gender diagnosis.

Description

technical field [0001] The invention relates to a kit for detecting fragile X syndrome in clinical samples, in particular to a kit for screening fragile X syndrome by bisulfite modification-long fragment polymerase chain reaction technology. Background technique [0002] Fragile X syndrome (FraX) is a common hereditary mental retardation syndrome, its incidence is second only to Down syndrome, it is X-linked inheritance, accounting for 40% of X-linked mental retardation. The incidence rate is 1 / 4000 in males and 1 / 6000 in females. Penetrance also varies by gender, 80% for men and 30% for women. Fragile X syndrome has two major characteristics in terms of phenotype: one is mild to severe mental retardation, IQ value between 20-60, accompanied by different degrees of abnormal body shape; big head, square forehead, big ears , Large mandible, most male patients develop large testicles after puberty, and have a clear family history of sex-linked mental retardation. The second ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68
Inventor 李明陈嘉昌陈华云
Owner DAAN GENE CO LTD
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