Primer composition, kit and method for detecting susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration

Abstract

The invention discloses a primer composition, a kit and a method for detecting susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration. The invention firstly discloses the primer composition for detecting the susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration. The invention further discloses the kit containing the primer composition and themethod for detecting the susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration. The method for detecting the susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration integrates gene mutation and copy number mutation information of all exon and intron cleavage regions of susceptibility genes of hemochromatosis and hepatolenticular degeneration inChinese population, and has the advantages of high detection flux, high specificity and sensitivity, 100% of sequencing coverage, more than 30x of depth, clear and objective gene detection result interpretation, good accuracy and repeatability, low cost, simple operation and easy popularization; and the method can not only detect known high-incidence mutation, but also discover new mutation sites.

Description

technical field [0001] The invention relates to the field of gene detection. In particular, it relates to a primer composition, a kit and a method for detecting mutations in susceptibility genes of hemochromatosis and hepatolenticular degeneration. More specifically, it relates to a high-throughput sequencing-based primer composition, kit and method for detecting mutations in susceptibility genes for hemochromatosis and hepatolenticular degeneration in Chinese population. Background technique [0002] Hemochromatosis (HC) and hepatolenticular degeneration (HLD) refer to hepatic metabolic disorders caused by gene mutations, with congenital, lifelong and familial characteristics. Since early clinical symptoms and laboratory tests often have no specific indications, missed or misdiagnosed diseases often occur, which greatly hinders the diagnosis and differential diagnosis of genetic metabolic liver diseases. [0003] Hemochromatosis, also known as hereditary hemochromatosis (...

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Problems solved by technology

[0008] At present, the biggest limitation of diagnostic techniques and methods for hemochromatosis and hepatolenticular degeneration lies in the general low throughput and high price, which cannot meet the current situation that the number of patients with these two inherited metabolic liver diseases is increasing year by year; at the same time, the detection of enzyme activity or metabolites The test results suggest indirect evidence, which has the disadvantages of difficult interpretation, poor repeatability, and many false positives and false negatives

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