Detection probe, method, chip and application of α and/or β-thalassemia mutation based on whole gene capture sequencing

Abstract

The present invention provides a detection primer, method, chip and application of α and / or β-thalassemia point mutations and deletion mutations based on whole gene capture sequencing. The present invention enriches all related genes involved in α and β thalassemia by designing capture probes, detects mutation information such as all SNPs and indels in the full-length sequences of each gene, and simultaneously increases The upstream and downstream regions of each coding gene are used as a reference to detect structural variations such as SNVs and CNVs. Compared with the current detection techniques of various hotspot mutation sites, the present invention can not only detect the information of hotspot mutations, but also detect some rare mutations and undiscovered new mutation types, and realize the specific detection and analysis of the full-length sequence of the target gene. Full coverage of types, greatly making up for the missed detection of low-frequency mutations and rare mutations by conventional detection methods.

Description

technical field [0001] The invention belongs to the field of genomics and molecular biology, and in particular relates to a detection probe, method, chip and application of α and / or β-thalassemia mutations based on whole gene capture sequencing. Background technique [0002] Thalassemia is also known as thalassemia or thalassemia. The mutation types and mutation sites of thalassemia-related genes are intricate, ranging from thousands to thousands. For example, although most patients with static α-thalassemia (αα / α-) or (αα / ααT), mild α-thalassemia (αα / --) or (α- / α-) have no obvious clinical symptoms, if the couple is Carriers of the homotype mutation, their children have a 25% chance of being thalassemia major, and a 50% chance of being a gene carrier; - / --), (ααT / --) or (ααT / ααT) patients may present with mild to moderate anemia and hepatosplenomegaly; more severe HB Bart's fetal hydrops syndrome (-- / --) Most of them died in the third trimester of pregnancy (34-40 weeks)...

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Problems solved by technology

Although the patent mentions that it can be used for the detection of thalassemia, it does not give a clear method and means

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