Kit and method for detecting mutation of thalassemia-related gene and use thereof

A technology for detection kits and detection methods, which is applied in the field of medical genetics and can solve problems such as poor accuracy of detection results

Inactive Publication Date: 2017-07-11
深圳市龙华区人民医院 +1
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0006] The first purpose of the present invention is to provide a detection kit for thalassemia-related gene mutations, the second purpose of the present invention is the application of the detection kit for thalassemia-related gene mutations, and the third purpose of the present invention To provide a detection method for thalassemia-related gene mutations, the fourth purpose of the present invention is to provide the application of the detection method for thalassemia-related gene mutations, so as to alleviate the technical problems of poor detection results existing in the prior art

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  • Kit and method for detecting mutation of thalassemia-related gene and use thereof
  • Kit and method for detecting mutation of thalassemia-related gene and use thereof
  • Kit and method for detecting mutation of thalassemia-related gene and use thereof

Examples

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Embodiment 1

[0091] This example provides a detection method for gene mutations related to thalassemia, and its technical roadmap is as follows: figure 1 shown.

[0092] The detection method provided in this embodiment comprises the following steps:

[0093] 1. Collect samples

[0094] 2. Extract DNA from the sample. Various conventional reagents in this field can be used for DNA extraction, and genomic DNA can be extracted by referring to existing conventional methods.

[0095] 3. PCR reaction detection of three common α-thalassemia deletion mutations

[0096] (1)-- SEA , -α 3.7 , -α 4.2 For the schematic diagram of deletion mutation PCR detection, see figure 2 , A, B, C, D, E, F, G, H, L all represent primers, and arrows represent the direction of primers, ie 5'-3'.

[0097] (2) The design of primers for detecting three α-thalassemia deletion mutations is shown in Table 2:

[0098] Table 2

[0099]

[0100] 4. Detection of α-thalassemia and β-thalassemia-related genes by PCR r...

Embodiment 2

[0117] This example provides a detection method for thalassemia-related gene mutations. The goal is to detect α and β thalassemia-related gene mutations. The primers and PCR optimization schemes involved in Example 1 are used. The selected samples are peripheral blood from 7 cases of people. Blood samples, 6 of which were known -- SEA , -α 3.7 , -α 4.2 , CS, QS, WS heterozygous mutations, 1 case was a sample from a normal person, and the peripheral blood sample came from the Department of Pediatrics, Longhua District People's Hospital, Shenzhen.

[0118] 1. Collection and processing of peripheral blood samples

[0119] (1) Collect 2 ml of peripheral blood with a vacuum blood collection tube containing EDTA, and extract 200 μl of genomic DNA.

[0120] (2) Blood Genomic DNA Extraction Kit (DP318, Tiangen Biology) for Genomic DNA Extraction from Peripheral Blood.

[0121] (3) Use a Nanodrop 2000 spectrophotometer to measure its concentration, and confirm its high purity accor...

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Abstract

The invention provides a kit and method for detecting mutation of a thalassemia-related gene and a use thereof and relates to the technical field of medical genetics. The kit for detection is used for detecting many types of patients such as people needing premarital checkup, people in gestation, newborns, people in a zone having high incidence of thalassemia and people having thalassemia family heredity history, can realize accurate, comprehensive, visual and simple detection of mutation of a thalassemia-related gene, has a detection mutation range comprising HBA1, HBA2 and HBB genes in the genome and neighbouring zones and has the characteristics of simpleness, accuracy, good repeatability and promotion and use easiness.

Description

technical field [0001] The invention relates to the technical field of medical genetics, in particular to a detection kit, detection method and application of thalassemia-related gene mutations. Background technique [0002] Thalassemia (referred to as thalassemia) is a monogenic hereditary hemoglobinopathy, which is caused by the loss or mutation of the gene that regulates globin synthesis, which leads to an imbalance in the synthesis ratio of α-chain and β-chain globin that constitute hemoglobin, and shortens the lifespan of red blood cells. a hemolytic anemia. Southern my country, especially Guangxi, Guangdong, and Hainan are high-incidence areas. The national epidemiological survey of 900,000 people gave a total incidence rate of 2.46%. Among them, the incidence rates in Guangxi, Guangdong, Jiangxi, Sichuan and Zhejiang provinces are 14.95%, 4.11%, 2.6%, 1.92% and 1.20% respectively. There is no effective treatment for this disease, so prenatal diagnosis and premarital...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6869C12Q1/6883C12Q2600/156C12Q2535/122C12Q2537/165
Inventor 侯伟
Owner 深圳市龙华区人民医院
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