Gene detection kit for Thailand type alpha-thalassemia

Abstract

The invention relates to the field of biological medicine, and in particular relates to a gene detection kit for quickly detecting Thailand type alpha-thalassemia in a clinic sample. The technical scheme of the gene detection kit aims at providing the gene detection kit for the Thailand type alpha-thalassemia, wherein the gene detection kit comprises PCR (polymerase chain reaction) liquid, the PCR reaction liquid comprises a forward primer THAI-F and a reverse primer THAI-R, the primers are the forward 10724-10725 position and the reverse 1219-1220 position of the breaking point position aiming at the Thailand type alpha-thalassemia, and the primers are respectively designed at the forward 5'-end and the reverse 3'-end of the breaking point. According to the kit provided by the invention, the leak detection of the alpha-thalassemia caused by the common blood screening method can be reduced, the birth of the children who suffer from the heavy type alpha-thalassemia can be reduced or avoided, and a condition can be created for the more comprehensive thalassemia screening. The detection kit provided by the invention is convenient to use, high in accuracy, and good in social benefit and economic benefit in the high incidence area of the thalassemia.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a kit for rapidly detecting the genotype of Thai-type α-thalassemia in clinical samples. Background technique [0002] α-thalassemia "thalassemia" (abbreviated as α-thalassemia) is an autosomal recessive genetic disease and one of the most common human single-gene genetic diseases in the world. common disease. The disease is caused by the deletion or mutation of the globin gene sequence, which leads to the disorder of the synthesis of the α-globin peptide chain, which reduces or fails the synthesis of the α-globin peptide chain, and makes the synthesis of the α- and β-chains that make up the globin lose. Hemolytic anemia caused by balance. [0003] The human α-globin gene cluster is located on chromosome 16 p13.3, about 40kb in length, each chromosome has 2 α-globin genes, and a pair of chromosomes has 4 α-globin genes; most α-thalassemias are caused by α-globin It is caused by the ...

AI Technical Summary

Problems solved by technology

Although this method has high accuracy, it is cumbersome to operate, time-consuming and labor-intensive, requires a large amount of DNA, requires radioactive labeling, and cannot be applied to the detection of non-deleted genes. Therefore, it is generally only suitable for research use and is not suitable for clinical application.

[0007] (2) Probe Ligation Amplification (MLPA): MLPA was developed in 2002 and is commonly used in the detection of α-thalassemia deletion genes. Hours, and requires special equipment, generally only used for research, not convenient for the popularization and application of molecular screening methods

[0008] (3) Sequencing technology: The direct analysis of DNA sequences by sequencing technology has always been considered as the gold standard for clinical testing; currently, sequencing technology faces the problems of specimen processing (nucleic acid extraction), amplification standardization certification, signal detection, and sequencing platform specificity. The problems of error and error correction, as well as possible problems in bioinformatics, clinical verification procedures and standardization problems have not been effectively solved, so they have not been widely used in clinical practice.

[0018] In the existing patented technology of α-thalassemia detection products, there is no direct detection of Thai-type α-thalassemia (-- Thai ) detection, all only appear based on -- SEA ,-α 3.7 ,-α 4.2 ,-α 2.8 and other detection techniques and methods

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