Probe and gene chip for thalassemia detection, preparation method and applications

Abstract

The invention discloses a probe and a gene chip for thalassemia detection, a preparation method and applications. The preparation method of the probe for the thalassemia detection includes the following steps: constructing a capture interval library based on different thalassemia genes, modified genes and mutations; and designing a capture probe according to the capture interval library, wherein the capture interval library includes all globin genes and important regulatory region full-length fragments of an alpha gene cluster and a beta gene cluster, recorded breakpoint mutation sites, SNP sites selected from deletion mutations, and SNP sites on thalassemia modified genes. The preparation method of the invention is to design the probe aiming at all gene clusters and related genes of thalassemia, and so the probe can cover all thalassemia gene mutations. The preparation method is combined with Tn5 library construction and high-throughput sequencing, and so all the mutations can be covered, and the method has the advantages of simple operation, high throughput and low cost, and is suitable for large-scale population diagnosis and screening of thalassemia and research and predictionof new unknown gene mutations.

Description

technical field [0001] The application relates to the field of detection of thalassemia, in particular to a probe for detection of thalassemia, a gene chip and its preparation method and application. Background technique [0002] Thalassemia is one of the most common genetic diseases in the world, mainly distributed in the Mediterranean region, the Middle East, India, Southeast Asia and Africa. Thalassemia is also one of the most common and most harmful genetic diseases in southern China. Thalassemia has an incidence rate of 2.5%-15% in the tropics and subtropics, as well as in southeast China. Among them, according to the statistics of the Guangdong Provincial Health Planning Commission, the carrier rate of the thalassemia gene among the registered population in Guangdong is about 16.8%, and the couples with the same type of thalassemia gene account for about 1.7%. There are more than 5,000 cases of severe α-thalassemia and 1,500 cases of severe β-thalassemia every year. ...

AI Technical Summary

Problems solved by technology

However, the experimental operation of this scheme is complicated, the detection cost is high, and the throughput is low, so it is not suitable for screening and diagnosis of large-scale population.

In addition, there are some common β point mutations detected by dot hybridization method, such as “nucleic acid hybridization membrane strip and kit for diagnosis of β-thalassemia” disclosed in the patent application CN1718742A, the kit can only detect 17 The patent application CN1453363A discloses "DNA chip for diagnosing thalassemia and its preparation method", which can only detect 21 types of mutations found in China; the detection method disclosed in the patent application CN102115781 A can only detect 27 beta thalassemia regions

These methods can detect limited mutation spectrum and cannot cover all mutation types, and can only detect known mutation types, with low throughput and high cost, and are not suitable for large-scale population diagnosis and screening of thalassemia

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