Gene chip for detecting alpha-thalassemia, using method thereof and kit with same

Abstract

The invention relates to a gene chip for detecting alpha-thalassemia, a using method thereof and a kit with the same. The gene chip comprises a solid-phase carrier and an oligonucleotide probe fixed on the solid-phase carrier, wherein the oligonucleotide probe is a nucleotide sequence shown as SEQ ID NO. 1-195. The using method comprises the following steps: (1) preparing a sample DNA fragment; (2) fluorescently labeling the DNA fragment; (3) purifying a gDNA labeled product; (4) hybridizing the gDNA labeled product with the gene chip; and (5) washing the hybridized gene chip, and scanning a chip hybridization signal. The invention also relates to the kit containing the gene chip. The gene chip provided by the invention has easy operation steps, is high in detection specificity and good in stability, and can complete a process from extracting samples to obtaining scanning results within two days, thereby being low in cost and applicable to detection for deletion or repeated mutation in patients with alpha-thalassemia and prenatal diagnosis.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a gene chip for detecting α-thalassemia, a use method and a kit. Background technique [0002] gene chip ( Gene chips ) is also known as DNA chip (DNA CHIP), DNA array (DNA arrays ), oligonucleotide microchip ( oligonucleotide micro-chip ), refers to the use of many specific oligonucleotide fragments or gene fragments as probes, which are regularly arranged and fixed on the support, and then hybridized with the genes of the labeled samples to be tested according to the principle of base pairing, and then passed the detection The system scans the chip, and is equipped with a computer system to analyze and process the strength of the hybridization signal, so as to quickly obtain the desired information. At present, gene chip technology is being gradually applied to various fields of life science. [0003] Thalassemia( thalassemia ), also known as thalassemia, is a group of her...

AI Technical Summary

Problems solved by technology

However, Gap-PCR often designs primers based on known deletion types. It can only detect known deletion mutations, the detection range is very limited, and it cannot detect other unknown and rare deletion types, which is very likely to cause missed diagnosis and lead to the birth of severely ill children.

In addition, multiplex ligation probe amplification (MLPA) technology can also be used to detect α-thalassemia deletion mutations, although compared with Gap-PCR, MLPA can not only detect α-thalassemia common, uncommon and Unknown rare deletion mutations, but MLPA technology still has certain limitations. It needs to accurately measure the concentration of DNA, the sample is easy to be contaminated, and there is a certain possibility of false positives. Especially for single exon deletion mutations, it is necessary to use the PCR method. Further verification experiments

In conclusion, there is currently no rapid, low-cost, high-throughput, and automated method for the detection of α-thalassemia deletion mutations

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