Kit for detecting gene mutation of progressive familial intrahepatic choleatasia (PFIC) and detection method of kit

Abstract

The invention relates to a kit for detecting gene mutation of progressive familial intrahepatic choleatasia (PFIC) and a detection method of the kit. The kit comprises a PCR amplification reaction agent and a PCR primer for amplifying ATP8B1 gene / ABCB4 gene / ABCB11 gene in sample DNA. The detection method comprises the steps of sample collection, PCR amplification and sequencing. The kit and the detection method can be used for detecting the mutation sites of ATP8B1 gene / ABCB4 gene / ABCB11 gene, and are good in specificity and high in sensitivity; after family members are screened, the risk of disease is clear; prenatal screening and intervention are carried out, so that the incidence of PFIC of the descendants is reduced; a method of the kit is simple; and the kit and the detection method have good application prospects.

Description

technical field [0001] The invention belongs to the field of kits, in particular to a kit for detecting gene mutations of progressive familial hepatic cholestasis and a detection method thereof. Background technique [0002] Progressive familial intrahepatic cholestasis is a severe cholestatic liver disease that is inherited in an autosomal recessive manner. Hepatocellular cholestasis is mainly due to gene mutations that cause defects in the production, modification, and regulation of functional proteins on hepatocytes and bile duct epithelial cells, which usually start in infancy or childhood and eventually develop into liver failure. According to the different pathogenic genes, PFIC is mainly divided into 3 types: ① PFIC1 (Byler disease) is caused by mutations in the ATP8B1 gene, resulting in a defect in the P-type ATPase-FIC1 encoded by the gene. Patients with PFIC1 are overloaded with bile acids in liver cells, but FIC1 is defective How it develops into cholestasis is u...

AI Technical Summary

Problems solved by technology

The PCR part of this project has the following two difficulties in the technical aspects: 1. This project needs to extract blood genome DNA. Due to many uncontrollable factors in the logistics and transportation of clinical specimens, it is often impossible to obtain good-quality whole blood specimens in clinical tests. Therefore, the quality of the DNA obtained will also have large sample-to-sample variability

2. Due to the large number of exons to be detected, that is, too many PCR target fragments, the PCR conditions are not uniform

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