DNA library for detecting and diagnosing pathogenesis genes of congenital thyroid diseases and application of DNA library

Abstract

The invention relates to a DNA library for detecting and diagnosing pathogenesis genes of congenital thyroid diseases through a targeting high-pass sequencing technology and application of the DNA library. The library comprises 362 pathogenesis genes of the congenital thyroid diseases. According to the DNA library and the application thereof, the 362 pathogenesis genes of the congenital thyroid diseases are optimized, a probe pool is designed, a target area library in accordance with the 362 pathogenesis genes of the congenital thyroid diseases is established, the library is subjected to sequencing by using the high-pass sequencing technology to look for pathogenesis mutations, and thus, genetics and molecular biology foundations are provided for clinical diagnosis. The DNA library has the characteristics of accuracy, rapidness, flexibility and low cost, the involved 362 genes are the pathogenesis genes in accordance with almost all congenital thyroid diseases such as thyroid paramorphia (maldevelopment, translocation and congenital absence), thyroid dysfunction and familial thyroid tumors, and thus, the DNA library has important significance and clinical value in diagnosis, differential diagnosis and individualized treatment on the congenital thyroid diseases.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and specifically relates to a DNA library for detecting and diagnosing pathogenic genes of congenital thyroid disease through targeted high-throughput sequencing technology and its application. Background technique [0002] The thyroid gland is a very important gland in vertebrates and belongs to the endocrine organ. In mammals, it is located below the thyroid cartilage in the neck, on both sides of the trachea. The human thyroid is shaped like a butterfly, like a shield, hence the name. The thyroid controls the rate at which energy is metabolized, makes protein, and regulates the body's sensitivity to other hormones. The thyroid gland regulates metabolism, growth and development, and regulates various organ systems of the body by producing thyroxine. The thyroid also produces calcitonin, which regulates the balance of calcium in the body. [0003] The normal development and function of t...

AI Technical Summary

Problems solved by technology

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

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