Kit used for screening genetic liver diseases

Abstract

The invention discloses a kit used for screening genetic liver diseases. The kit is high in detection flux, sensitivity, and specificity. The genetic liver diseases comprise progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, congenital bile acid synthesis defect, idiopathic bile acid malabsorption, Dubin-Johnson syndrome, hereditary hemochromatosis, alpha1 antitrypsin deficiency, glycogen storage disease, autosomal recessive polycystic kidney disease, Budd-Chiari syndrome, and the like. 39 genes, including 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, and NPC1, are detected in screening of genetic liver diseases. The kit comprises targeting capture probes SEQ NO:1-SEQ NO:722 targeting at all the exons of the 39 genes, and the kitis 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 outcome. 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 carbohydra...

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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