Primer set, chip and kit for genotyping detection of alpha thalassemia and beta thalassemia

Abstract

The present invention provides a primer set for detecting alpha thalassemia and beta thalassemia, and belongs to the field of molecular biology, wherein the primer set comprises an alpha primer set and a beta primer set. The invention further provides a chip capable of simultaneously detecting alpha thalassemia and beta thalassemia, wherein probes having sequences represented by SEQ ID NO:1-31 areimmobilized on the chip. Based on the primer set and the chip, the present invention further provides a kit capable of simultaneously detecting alpha thalassemia and beta thalassemia. The kit of theinvention has advantages of short detection time, low cost, convenient operation, closed tube operation and pollution reducing, and has great significance in the screening of thalassemia population, the genetic counseling and the prenatal diagnosis.

Description

technical field [0001] The invention belongs to the field of molecular biology medicine, and relates to a technology for detecting α and β thalassemia, in particular to a direct PCR (Direct PCR) combined with hybridization technology for simultaneously detecting 7 kinds of α thalassemia mutations and 19 kinds of point mutations β thalassemias kit. Background technique [0002] Thalassemia (thalassemia, referred to as thalassemia), is due to α or β globin gene deletion or mutation leads to globin chain synthesis disorder, resulting in an imbalance in the ratio of α chain to β chain, and the relative excess chain is in a free state, which leads to Hemoglobin is unstable, redundant globin chains are deposited on the red blood cell membrane, prone to oxidative denaturation, and the permeability and fragility of the red blood cell membrane are changed, leading to hemolytic anemia. Clinically, chronic progressive hemolysis with varying symptoms is often manifested sexual anemia. ...

AI Technical Summary

Problems solved by technology

[0009] In addition, these techniques require DNA extraction, which is cumbersome and complicated, time-consuming, prone to cross-contamination, and experiments require DNA automatic extraction instruments, precision instruments and reagent consumables, which are expensive and cannot be widely used clinically.

The quality of DNA is a very critical factor for the success of PCR, and the process of extracting and purifying DNA is easily contaminated, making the experiment prone to false negatives or false positives, which can easily cause missed or false detections

[0010] In addition, at the same time, a large number of samples are required. For the transportation of samples collected in remote areas, cold chain equipment is required, and a three-level packaging system is required, and the storage space for samples is large; the risk factor of biosafety is high.

For samples such as whole blood, amniotic fluid, and DBS, there is no patented technology for direct detection of thalassemia without DNA purification, and there is no such product on the market

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