Probe for detecting common genetic diseases, gene chip, preparation method and application

Abstract

The invention discloses a probe for detecting common genetic diseases, a gene chip, a preparation method and application. The preparation method comprises the following steps of according to genes ofthalassemia, phenylketonuria, spinal muscular atrophy, hepatolenticular degeneration, pseudomuscular hypertrophy, glycogen storage disease Type II, methylmalonic academia, methylmalonic aciduria-accompanied type cysteine peptiduria Type cb1C, and oculocutaneous albinism Type 1, constructing a target capturing area, and designing a capturing probe, wherein the target capturing area comprises all globin genes, important regulating areas, deleted mutation breakpoints and SNP (single nucleotide polymorphism) sites of alpha and beta genes, and SMN1, PAH, ATP7B, DMD, GAA, MUT, MMACHC and TYR genes.The probe for the gene mutation of common genetic diseases can be designed according to the related genes of nine types of genetic diseases, and the prepared probe can be used for detecting the nine types of genetic diseases, and be suitable for large-scale population diagnosis and screening.

Description

technical field [0001] This application relates to the field of gene detection related to genetic diseases, in particular to a probe, gene chip, preparation method and application for detection of common genetic diseases. Background technique [0002] Single gene genetic disease is a kind of chronic disease that causes serious damage to human health, such as death, disability or deformity, but lacks effective diagnosis and treatment methods, and is also one of the main causes of birth defects. Except for a few diseases, most monogenic diseases still lack effective treatments; and even a few monogenic diseases that can be treated are not only expensive and have limited effects, but also require life-long care for patients and their families. The method and psychology also bring a huge burden. [0003] The most effective way to prevent single-gene diseases is to test the gene mutations related to common genetic diseases for couples of childbearing age. Based on the test resul...

AI Technical Summary

Problems solved by technology

[0004] At present, traditional detection methods are generally used in clinical products or kits for detecting a common single gene disease. For example, the detection methods of thalassemia include Gap-PCR, PCR-RDB, realtime PCR and sanger sequencing, etc. The detection methods of SMA mutations include QPCR, Multiple Ligation Probe Amplification (MLPA), etc.; the diseases that these products can detect are limited, and the detection methods have disadvantages such as low detection throughput, high cost, and limited detection range

In addition, clinically there are products that can simultaneously detect multiple genetic diseases, but these products are basically a combination of multiple detection methods, such as next-generation sequencing technology combined with sanger sequencing or Gap-PCR, MLPA and other methods. Although it can simultaneously detect conventional gene mutations (based on next-generation sequencing methods) and complex gene mutations (based on traditional sanger sequencing or Gap-PCR, MLPA, etc.), there are still defects such as cumbersome operation procedures and low throughput.

Images