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Gene chip for detecting Smith-Magenis syndrome

A gene chip and syndrome technology, which is applied in the field of gene chip detection of Smith-Magenis syndrome, can solve the problems of low-cost Smith-Magenis syndrome gene mutation, etc., and achieve high repeatability, high detection specificity, short time effect

Inactive Publication Date: 2013-01-23
THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there is currently no rapid, low-cost, high-throughput and automated method for the detection of gene mutations in Smith-Magenis syndrome

Method used

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  • Gene chip for detecting Smith-Magenis syndrome
  • Gene chip for detecting Smith-Magenis syndrome
  • Gene chip for detecting Smith-Magenis syndrome

Examples

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Effect test

Embodiment 1

[0024] Step 1, sample preparation

[0025] Adjust the temperature of the water bath to 37°C and 65°C, dissolve 10X Buffer C, vortex briefly and then centrifuge for a few seconds.

[0026] For each reaction, gDNA was added to an appropriate nuclease-free PCR tube and nuclease-free water was added to bring the reaction volume to 10.1 μL.

[0027] Prepare Digestion Master Mix on ice, and add the following reagents in sequence, as shown in Table 2;

[0028] Table 2

[0029]

[0030]

[0031] Add 2.9 μL enzyme digestion reaction solution into the gDNA reaction tube to make the volume reach 13 μL; mix it upside down; carry out PCR reaction, the reaction program is: run at 37°C for 2 hours, run at 65°C for 20 minutes; Transfer the reaction tube to ice, take 2 μL of digested gDNA, prepare 0.8% agarose gel, stain with SYBR Gold, and run electrophoresis to check whether the digestion is complete. Most of the above enzyme digestion products are 200bp-500bp in length.

[0032] S...

Embodiment 2

[0056] The gene chip for detecting Smith-Magenis syndrome of the present invention is used to detect and screen related populations. The results show that the diagnostic chip has simple operation steps, high detection specificity, and good stability; multiple tests have high repeatability; The time is short, from sample extraction to scan results can be completed within one working day.

[0057] The results of the above examples show that the gene chip for detecting Smith-Magenis syndrome of the present invention has simple operation steps, high detection specificity, good stability, short time and low cost, and can be quickly, low-cost, large-throughput and automated. Test for mutations in the Smith-Magenis syndrome gene.

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Abstract

The invention belongs to the field of gene chips, and relates to a gene chip for detecting a Smith-Magenis syndrome. The gene chip provided by the invention comprises a substrate and a probe, wherein the probe is immobilized on the substrate; the probe is a nucleotide sequence represented by SEQ ID NO.1-50; and the substrate is one of a glass slide, a silicon wafer, a film and a high polymer material. The gene chip provided by the invention has the advantages of simple operation steps, high detection specificity, good stability, short time and low cost, and being capable of quickly and automatically detecting gene mutation of the Smith-Magenis syndrome with low cost and high flux.

Description

technical field [0001] The invention belongs to the field of gene chips and relates to a gene chip for detecting Smith-Magenis syndrome. Background technique [0002] Smith-Magenis syndrome is a congenital disease that can cause severe learning disabilities, hyperactivity, and abnormal sleep patterns. Patients are also accompanied by deletions in the p11.2 region of chromosome l7. According to reports, one in every 25,000 children is born with Smith-Magenis syndrome. Currently, some scientists suspect that Smith-Magenis may be caused by the deletion of the Perl gene; the Perl gene is located outside the deletion region of chromosome l7, and it may be that a nearby gene deletion changes the way Perl is expressed and destroys Perl's cycle, thus altering the patient's circadian rhythm. In addition, the clinical manifestations of Smith-Magenis syndrome include self-harm behavior, low pain threshold, abnormal secretion of melatonin, willingness to insert foreign objects into bo...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C40B40/06
Inventor 李笑天贺林郭奇桑秦胜营龚小会吴茜
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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