DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders and application thereof

Abstract

The invention relates to a DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders through a targeted high-throughput sequencing technology and application thereof. The library comprises 507 pathogenic genes of skeletal development disorders. According to the invention, 507 pathogenic genes of skeletal development disorders are preferably selected, a probe pool is designed, a target region library for 507 pathogenic genes of skeletal development disorders is established, and the library utilizes the high-throughput sequencing technology for sequencing to find pathogenic mutations, thereby providing genetic and molecular biological bases for clinical diagnosis. The DNA library provided by the invention has the characteristics of accuracy, rapidness, flexibility and low cost. The 507 genes involved in the invention include pathogenic genes of genetic diseases with skeletal development disorders as clinical manifestations, such as collagen dysplasia, metaphysic dysplasia, osteogenesis imperfecta and bone density reduction, mucopolysaccharide storage disease, cartilage dysplasia and the like, and have important significance and clinical value for diagnosis, differential diagnosis and accurate treatment of skeletal development disorders.

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 skeletal developmental disorders through targeted high-throughput sequencing technology and an application thereof. Background technique [0002] Skeletal dysplasia (SD) is a type of hereditary disease that affects the composition and structure of bone and cartilage tissue. abnormalities, changes in bone density, etc. The incidence of the disease is about 3 / 10000, and it is conservatively estimated that there are millions of patients nationwide. Patients are often complicated by skeletal deformities in different parts of the body, and the clinical phenotypes are different, with achondroplasia and osteogenesis imperfecta being the most common types. The general symptoms are short stature, dislocation of joints, deformity of head and limbs, abnormal curvature of spine, changes in bone density, etc. The...

AI Technical Summary

Problems solved by technology

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

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