DNA library for detection and diagnosis of polycystic kidney causing genes and application thereof

Abstract

The invention discloses a DNA library for detection of polycystic kidney causing gene mutation by means of the targeted high-flux semiconductor sequencing technology and application thereof. Specifically, a primer pond is designed according to six polycystic kidney causing genes, sample genome DNA is subjected to super-multiple PCR amplification, the amplified product is sequenced by means of the high-flux semiconductor sequencing technology, causing mutation is found, genetic causes of polycystic kidneys are clarified, genetic and molecular biological theoretical bases are provided for clinical diagnosis, support is provided for donor identification in a later-period transplanting operation on a polycystic kidney patient, and a basis is provided for selective good birth and good care by the polycystic kidney patient. The DNA library has the advantages of being accurate, rapid, flexible and low in cost. Through the detection region of the six genes related to the DNA library, autosomal dominant polycystic kidneys and autosomal recessive polycystic kidneys can be detected, and the DNA library has a significant meaning and clinical value for diagnosis and identification of polycystic kidneys.

Description

technical field [0001] The invention relates to a DNA library for detecting and diagnosing polycystic kidney disease-causing genes by targeted high-throughput semiconductor sequencing technology and its application. Specifically, according to the polycystic kidney disease-causing gene, design supermultiplex PCR primers that can cover the exons and adjacent regions of the above genes, and perform supermultiplex PCR amplification on the sample genomic DNA, and the amplified products are analyzed using high-throughput sequencing technology. Sequencing, looking for pathogenic mutations, clarifying the genetic etiology of polycystic kidney disease, providing a theoretical basis for genetics and molecular biology for clinical diagnosis, providing support for the identification of donors for late-stage transplantation in patients with polycystic kidney disease, and conducting clinical trials for patients with polycystic kidney disease Selective prenatal and postnatal care provides th...

AI Technical Summary

Problems solved by technology

However, imaging tests are not specific and cannot accurately distinguish the specific types of polycystic kidney disease

Accurate diagnosis also cannot be made in young patients who do not show clinical symptoms at an early stage

Therefore, at present, the combination of clinical symptoms and imaging examinations alone cannot accurately distinguish the various polycystic kidney diseases. Predictive genetic diagnosis is the only solution to this problem.

However, the traditional gene detection method based on Sanger sequencing has the disadvantage of low throughput, and only one amplified region can be detected in one reaction, which cannot meet the requirements of the huge gene detection area of ​​polycystic kidney disease and the timeliness of multi-sample detection.

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