A kit for screening genetic liver diseases

Abstract

A kit for screening genetic liver diseases with high detection throughput, high sensitivity and strong specificity, the genetic liver diseases include progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, Congenital defects in bile acid synthesis, primary bile acid malabsorption, Dubin‑Johnson syndrome, hereditary hemochromatosis, alpha 1 antitrypsin deficiency, glycogen storage disease, autosomal recessive polycystic kidney disease, Budd Chiari syndrome , glycogen accumulation disease, etc. The genetic liver disease screening detects a total of 39 genes, namely ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, HSD3B7, AKR1D1, CYP7B1, AMACR, ABCD3, SLC10A2, ABCC2, HFE, TFR2, SERPINA1, G6PC, SLC37A4, AGL, PYGL, SLC40A1, PKHD1, F5, GYS2, VIPAS39, SLC25A13, JAG1, NOTCH2, PHKA2, PHKB, PHKG2, PHKA1, ALAD, HAMP, HFE2, SMPD1, ATP7B, ABCA1, NPC2, NPC1; the kit includes targeted capture probes SEQ NO: 1 to SEQ NO: 722 for all exons of 39 genes. The invention is used for gene detection.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a genetic detection kit for genetic liver disease by next-generation sequencing. Background technique [0002] The liver is the largest metabolic organ in the human body. The 2013 Canadian census report pointed out that one tenth of the population suffers from varying degrees of liver disease. It is estimated that there are more than 100 types of liver diseases, most of which are hereditary. Hereditary liver diseases refer to liver metabolic disorders caused by gene mutations. Liver involvement occurs early in all inherited liver diseases, despite varying penetrance, age of onset, and clinical outcomes. At this time, clinical symptoms and laboratory tests often have no specific indications, and it is difficult to carry out differential diagnosis of liver diseases. [0003] Hereditary liver diseases can be divided into seven categories according to metabolic disorders: ① carbohydr...

AI Technical Summary

Problems solved by technology

The biggest limitation of these technologies and methods is that the throughput is generally low, and generally only one disease can be detected at a time, which cannot meet the current situation that the number of detected diseases of genetic liver diseases is increasing year by year; at the same time, the detection results of enzyme activity or metabolites suggest indirect evidence , there are disadvantages of difficult interpretation of results, poor repeatability, false positives and false negatives

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