Reagent composition and detection method for detecting autosomal dominant polycystic kidney disease

Abstract

The reagent composition for detecting the autosomal dominant polycystic kidney disease comprises a primer group, a first reagent for extracting genomic DNA from a sample; the second reagent is used for carrying out long fragment PCR reaction by using the primer group; a third agent for processing the amplification product such that the amplification product can be used in a high-throughput sequencing technique; and the fourth reagent is used for performing high-throughput sequencing on the treated amplification product. Comprising the following steps: S1, amplifying a PKD1 gene by using a reagent composition according to any one of claims 1-7 through long-fragment PCR (Polymerase Chain Reaction); s2, performing high-throughput sequencing on the amplified sequence obtained in the step (1); s3, comparing the sequencing result obtained in the step (2) with a PKD1 gene reference sequence, and determining a mutation site; s4, eliminating false gene locus interference through bioinformatics analysis, and determining a PKD1 true gene mutation locus; and S5, comparing the true gene mutation site determined in the step S4 with a known PKD1 gene mutation site, and determining a new mutation site on the PKD1 gene.

Description

technical field [0001] The invention relates to the technical field of biochemistry, in particular to a reagent composition for detecting autosomal dominant polycystic kidney disease. Background technique [0002] The kidney is an organ that excretes various substances that are metabolized in the body and are therefore present in the blood, especially filtering the blood through glomerular filtration and renal tubular absorption and reabsorption, thereby excreting unnecessary waste from the body in the form of urine organs. The kidneys weigh only about 0.5 percent of body weight, but the volume of blood flowing into the kidneys is 20 to 25 percent of the total cardiac output. Therefore, the kidney is one of the most vulnerable organs due to the presence of various toxic xenobiotics in the blood. For example, when an excessive amount of drugs is injected into the body, or when various types of metabolic diseases such as heart disease, diabetes, and high blood pressure occur...

AI Technical Summary

Problems solved by technology

For example, when an excessive amount of drugs is injected into the body, or when various types of metabolic diseases such as heart disease, diabetes, and high blood pressure occur, the kidneys may be damaged very slowly and eventually stop kidney function without subjective symptoms such as toxic xenobiotics are not excreted outside the body, leading to additional complications

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