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Gene chip for detecting Williams syndrome

A gene chip and syndrome technology, which is applied in the field of gene chips for the detection of Williams syndrome, achieves the effects of large-throughput and automated detection, high repeatability, and simple operation steps

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

AI Technical Summary

Problems solved by technology

Currently there is no rapid, low-cost, high-throughput and automated method for the detection of Williams syndrome gene mutations

Method used

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  • Gene chip for detecting Williams syndrome
  • Gene chip for detecting Williams syndrome
  • Gene chip for detecting Williams syndrome

Examples

Experimental program
Comparison scheme
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 order:

[0028]

[0029]

[0030] Add 2.9 μL of enzyme digestion reaction solution into the gDNA reaction tube to make the volume reach 13 μL. Invert up and down to mix. Carry out PCR reaction, the reaction program is: run at 37°C for 2 hours, run at 65°C for 20 minutes. After the reaction, 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. The length of most digestion products should be 200bp-500bp.

[0031] Step 2, fluorescent l...

Embodiment 2

[0053] The gene chip for detecting Williams 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.

[0054] The results of the above examples show that the gene chip for detecting Williams 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 detection To detect gene mutations in Williams syndrome.

[0055] SEQUENCE LISTING

[0056]

[0057] Obstetrics and Gynecology Hospital Affiliated to Fudan University

[0058]

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Abstract

The invention belongs to the field of a gene chip, and relates to a gene chip for detecting Williams syndrome. The gene chip provided by the invention comprises a substrate and a probe, wherein the probe is fixed 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 is simple in operation steps, high in detection specificity, good in stability, short in time and low in cost; and the gene chip is capable of quickly and automatically detecting gene mutation of the Williams syndrome at 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 Williams (WS) syndrome. Background technique [0002] Williams (WS) syndrome is a syndrome of congenital abnormalities, the main features of which are cardiovascular disease (aortic stenosis, pulmonary stenosis), hypercalcemia in infancy, short stature, developmental disorders, etc.; it is the seventh An adjacent gene deletion syndrome caused by a subtle defect in the q11.23 region of the long arm of chromosome number, with a prevalence rate of 1 in 10,000 to 20,000 births; there is an elastin gene (ELN) in the defective region, which is considered to be caused by ELN deficiency Cardiovascular disease is the cause of sudden death. [0003] Studies have found that most of Williams syndrome are sporadic cases, a few are familial inheritance, and there is no significant difference in incidence between men and women. [0004] Currently, the clinical diagnosis of Wil...

Claims

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Application Information

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Patent Type & Authority Applications(China)
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