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Joint detection kit for alpha,beta-thalassemia associated mutant genes

A technology for thalassemia and mutant genes, applied in the field of alpha, which can solve problems such as alpha that have not yet appeared

Active Publication Date: 2012-12-19
潮州凯普生物化学有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0010] So far, no α, β-thalassemia synchronous joint detection product has been clinically available

Method used

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  • Joint detection kit for alpha,beta-thalassemia associated mutant genes
  • Joint detection kit for alpha,beta-thalassemia associated mutant genes
  • Joint detection kit for alpha,beta-thalassemia associated mutant genes

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Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0065] 1. Preparation of gene chip for detection of α, β-thalassemia

[0066] 1-1. Probe design

[0067] α-thalassaemia is commonly seen in three α-globin gene deletions (-- SEA , -α 4.2 , -α 3.7 ) and 2 mutant types (Hb QS, Hb CS); β-thalassaemia is commonly found in 16 β-globin gene mutations (-28(A-G), -29(A-G), Cap(-AAAC), Int(T-G ), CD14 / 15(+G), CD17(A-T), βE(G-A), CD27 / 28(+C), CD31(-C), CD41 / 42(-TTCT), CD43(G-T), CD71 / 72 (+A), IVS-I-1(G-T, G-A), IVS-I-5(G-C), IVS-II-654(C-T)), in order to detect the above common mutation types of α, β-thalassaemia, this The inventors designed 31 probes in total, and the specific probes are SEQ ID Nos: 1-31.

[0068] 1-2. Spotting and Immobilization of DNA Probes

[0069] (1) Spotting and arrangement of probes

[0070] In the immobilization of direct oligonucleotide DNA probes, the DNA probes were first diluted with probe diluent (0.5M Na at pH 8.4 2 CO 3 and 0.5M NaHCO 3 solution) mixed and sampled. After the synthesis of the ...

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Abstract

The invention discloses a joint detection kit for detecting alpha,beta-thalassemia associated with mutant genes, which comprises (1) a gene chip and (2) a primer, wherein the gene chip is provided with probes, and the probes are a sequence SEQ ID Nos:1-31 and a sequence which is complementary to the sequence SEQ ID Nos:1-31; and the primer is a sequence SEQ ID Nos:32-42. The thalassemia gene detection kit provides a platform for detecting 16 mutant genes associated with alpha-thalassemia (three deletion types and two mutant types) and beta-thalassemia, can perform synchronous joint detection,improve the specificity of detection, reduce cost and shorten detection time, and has a great significance for the screening of patients suffering from thalassemia, genetic counseling and prenatal diagnosis.

Description

technical field [0001] The invention relates to the field of genes, in particular to a combined detection kit for α, β-thalassemia mutation genes. Background technique [0002] Thalassemia (hereinafter referred to as thalassemia) is a hemolytic anemia caused by an imbalance in the synthesis rate of α, β-globin peptide chains due to human gene mutation or deletion. Thalassemia is one of the most common genetic diseases in the world, and it is widely distributed in Mediterranean countries and other areas where malaria used to be high. In my country, the provinces south of the Yangtze River have a high incidence rate. In addition to the highest incidence rates in Guangdong, Guangxi, and Hainan provinces, Guizhou, Yunnan, and Sichuan are also high-incidence areas. The two common types of thalassemia are alpha-thalassemia and beta-thalassemia. [0003] α-thalassemia is a chronic hemolytic disease caused by autosomal genetic defect, which causes the loss or dysfunction of α-glob...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68
Inventor 朱娟娟李烈军邱美兰
Owner 潮州凯普生物化学有限公司
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