Probes, method and chip for detecting alpha and/or beta-thalassemia mutation based on whole-gene capture sequencing and application of such probes, such method and such chip

Abstract

The invention provides primers, a method and a chip for detecting alpha and/or beta-thalassemia point mutation and deletion mutation based on whole-gene capture sequencing and application of such primers, such method and such chip. The primers, the method, the chip and application thereof have the advantages that through designing of capture probes, relevant genes involved in alpha-thalassemia and beta-thalassemia are enriched and all mutation information including SNP and indel in full-length sequences of genes is detected; through addition of autosome, X-chromosome and Y-chromosome regions as well as upstream and downstream regions of coded genes as references, structure variations such as SNV and CNV are detected; compared with existing various hotspot mutation site detection technologies, the method is capable of detecting hotspot mutation information as well as some rare mutations and undiscovered new mutation types to detect and analyze full-length sequence specificity of target genes, fully covers the mutation types and makes up the defect that a conventional detection method easily causes missing detection of low-frequency mutations and rare mutations greatly.

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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