Kit used for screening genetic liver diseases

A hereditary and kit technology, which is applied in the field of genetic detection kits for hereditary liver diseases, can solve the problems such as the inability to meet the annual increase of detectable diseases of hereditary liver diseases, difficult interpretation of results, false positives and false negatives, etc., so as to achieve simplicity and efficiency. The effect of mass screening, clear and objective interpretation and strong specificity

Active Publication Date: 2018-11-30
施军平 +1
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  • Summary
  • Abstract
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  • Claims
  • Application Information

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 dise

Method used

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  • Kit used for screening genetic liver diseases
  • Kit used for screening genetic liver diseases
  • Kit used for screening genetic liver diseases

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0034] Example 1: Detection of Gene Mutations in Inherited Liver Diseases

[0035] 1. The clinical blood samples involved in this experiment came from the Affiliated Hospital of Hangzhou Normal University. Immediately after sample collection, store in a -80°C refrigerator.

[0036] 2. All reagents are purchased from regular manufacturers. The purity of all primers reached electrophoresis grade (PAGE) or HPLC grade, without any bands.

[0037] 3. Genomic DNA extraction

[0038] After mixing the whole blood, DNA was extracted using QIAamp DNA Blood Mini kit (Qiagen, USA). DNA concentration was quantified using Qubit dsDNA HS assay kit and Qubit Fluorometer (Life Technologies, USA). DNA purity (A260 / 280 and A260 / 230) was identified using Nanodrop-2000 (Thermo Fisher Scientific, USA).

[0039] 4. Library Preparation

[0040] Genomic DNA was fragmented into 350 or 550bp fragments using Covaris M220 (Covaris, USA). The sequencing library was prepared by Accel-NGS 2S Hyb DNA L...

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PUM

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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...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
CPCC12Q1/6883
Inventor 施军平杨劲
Owner 施军平
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