DNA library for detecting and diagnosing pathogenic genes of maturity onset diabetes of young and application of DNA library

Abstract

The invention relates to a DNA library for detecting and diagnosing pathogenic genes of maturity onset diabetes of the young through a targeted high-throughput sequencing technology and application ofthe DNA library. The library comprises 14 pathogenic genes of maturity onset diabetes of the young. According to the DNA library, 14 pathogenic genes of maturity onset diabetes of the young are preferred, a probe pool is designed, a target region library for the 14 pathogenic genes of maturity onset diabetes of the young is established, the library uses the high-throughput sequencing technology for sequencing and searching for pathogenic mutations, and genetic and molecular biological basis is provided for clinical diagnosis. The DNA library has the characteristics of accuracy rapidity, flexibility and low cost, the related 14 pathogenic genes are the known pathogenic genes from type 1 to type 14 of maturity onset diabetes of the young, and important significance and clinical value for the diagnosis, differential diagnosis and precise treatment of maturity onset diabetes of the young are achieved.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and specifically relates to a DNA library for detecting and diagnosing adult-onset diabetes-causing genes in juveniles by targeted high-throughput sequencing technology and an application thereof. Background technique [0002] Maturity onset diabetes of the young (MODY) is a special type of diabetes caused by a single gene mutation. It is characterized by early age of onset, autosomal dominant inheritance, defective beta-cell function, and no evidence of autoimmunity or insulin resistance. Juvenile-onset maturity-onset diabetes accounts for 1-2% of the diabetic population. Due to its overlap with type 1 diabetes and type 2 diabetes, currently most adolescent-onset adult-onset diabetes patients are misdiagnosed as type 1 diabetes or type 2 diabetes, resulting in an underestimation of the actual prevalence. The correct molecular diagnosis is of great significance for the reasonable selection ...

AI Technical Summary

Problems solved by technology

[0004] At present, clinical laboratories mostly use the traditional Sanger sequencing method to detect gene mutations. However, if many pathogenic genes of adult-onset diabetes mellitus are detected at the same time, not only the workload is huge, but also the detection efficiency is low, and more importantly, precious waste is wasted. DNA samples, significantly increasing the cost of genetic diagnosis, seriously restricting its large-scale application in clinical molecular diagnosis

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