Method, kit and application for diagnosing thalassemia based on liquid chip system

A thalassemia, liquid-phase chip technology, applied in biochemical equipment and methods, microbial determination/inspection, fluorescence/phosphorescence, etc. question

Active Publication Date: 2011-12-14
GUANGDONG WOMEN & CHILDREN HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

At present, there have been reports on the detection of thalassemia using liquid-phase chips, but the detection sites are few, the technology is not mature enough, and it cannot meet the clinical needs, and there are no similar products on the market at home and abroad.

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  • Method, kit and application for diagnosing thalassemia based on liquid chip system
  • Method, kit and application for diagnosing thalassemia based on liquid chip system

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Embodiment 1

[0085] Based on the liquid phase chip technology, the invention establishes a method for diagnosing alpha and beta thalassemia gene defects. The present invention uses liquid phase chip technology, bioinformatics knowledge and related bioinformatics software to conduct sequence analysis on thalassemia gene defects, and designs PCR primers and specific probes for thalassemia gene defect fragments. Biotin modification is carried out at the 5' end; specific probes are coupled with fluorescently encoded microspheres to make specific detection microspheres, that is, liquid phase chips. The liquid-phase chip can specifically identify the defective fragment of the thalassemia gene, hybridize with the liquid-phase chip after multiplex PCR amplification, and finally read out the detection result through the liquid-phase chip detector. details as follows:

[0086] (1) Design primers

[0087] Common α-globin gene deletion mutations in the Chinese population include -SEA, -α 3.7 , -α ...

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Abstract

Disclosed are a method for diagnosing thalassemia based on a liquid chip system, and a kit and an application. The present invention designs probes for detecting a, ß thalassemia genetic defect types. These probes are respectively cross-linked and mixed with fluorescent encoding microspheres of different colors to obtain liquid chips for diagnosing a, ß thalassemia. After PCR amplification is performed, by using a specific primer of the present invention, on a sample to be detected, a biotin-labeled PCR product is obtained, which is then hybridized with the liquid chip of the present invention, and further undergoes fluorescence labeling by use of phycoerythrin. Finally, a detection result is read out through a liquid chip detector. The kit of the present invention comprises PCR primers and specific probes, and can detect deletion or non-deletion point mutation a, ß thalassemia.

Description

technical field [0001] The invention relates to a method for diagnosing thalassemia, in particular to a method, kit and application for diagnosing thalassemia based on a liquid phase chip system. Background technique [0002] Thalassemia (referred to as thalassemia) is the most common human monogenic hereditary blood disease in the world. It is a group of hereditary diseases caused by the loss or point mutation of the globin gene, which reduces or fails to synthesize the globin peptide chain in hemoglobin. Hemolytic anemia. The disease is mainly seen in the west from the Mediterranean coast, through Turkey, Middle East countries in the middle, east to Southeast Asian countries and southern my country. The provinces south of the Yangtze River in my country have the highest incidence rate, among which Guangdong, Guangxi, Sichuan, Yunnan, Hainan, Hong Kong and Taiwan are more common. According to the type of globin chain lacking in this disease and the degree of deficiency, i...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68G01N21/64
CPCC12Q1/68G01N21/64C12Q1/6837C12Q1/686
Inventor 张小庄尹爱华张亮骆明勇叶宁张彦梁驹卿杜丽何天文符振华
Owner GUANGDONG WOMEN & CHILDREN HOSPITAL
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