Thalassemia mutant gene detection primer composition and reagent thereof

Abstract

The invention discloses a thalassemia mutant gene detection primer composition. The thalassemia mutant gene detection primer composition comprises 131 pairs of first primers; each pair of first primers comprises a forward primer and a reverse primer, and each of the forward primer and the reverse primer comprises an amplification primer pair and other sequences connected with the 5' end of the amplification primer pair; the specific sequence of each pair of forward primer and reverse primer is selected from the sequences as shown in SEQ ID NO.1 to 262. According to the invention, three germline mutation related genes, namely HBA1 / 2 and HBB, which are important to thalassemia, are selected, not only can common SNV and short indel be detected, but also complex CNV mutation can be detected, and through peripheral blood gDNA detection, on one hand, genetic diagnosis of alpha and / or beta thalassemia can be carried out on suspected thalassemia patients, and on the other hand, genetic evaluation can be carried out on high-risk couples with thalassemia, and prenatal genetic diagnosis can be carried out on fetuses.

Description

technical field [0001] The invention relates to the technical field of genetic engineering technology, in particular to a thalassemia mutation gene detection primer composition and reagents thereof. Background technique [0002] Next-generation sequencing technology (Next-Generation Sequencing, NGS), also known as next-generation sequencing technology, is a high-throughput detection technology that can sequence hundreds of thousands or even hundreds of millions of DNA molecules at a time. It is used in prenatal detection, tumor mutation analysis and medication guidance, pathogenic microorganism screening and other fields. The Illumina platform is now the most commonly used NGS sequencer in China, with a relatively high market share. The Ion Torrent platform and the domestic MGI platform also have their own unique advantages, and the domestic application ratio is also growing steadily. [0003] Before NGS sequencing, it is usually necessary to enrich and amplify a specific ...

AI Technical Summary

Problems solved by technology

Due to the differences in the principle, reagents, and sequence and length of Barcode and UID fragments of each sequencer manufacturer, the library construction reagent (hybridization capture probe library / multiple PCR primer pool) used on a sequencing platform is designed. ) are generally not suitable for use on other platforms, causing some inconvenience

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