DNA library capable of detecting and diagnosing nystagmus infective genes and application of DNA library

Abstract

The invention relates to a DNA library capable of diagnosing nystagmus infective genes through a targeted high-flux sequencing technique and an application of the DNA library. The library comprises 674 nystagmus infective genes. According to the DNA library disclosed by the invention, 674 nystagmus infective genes are preferably selected, a probe pond is designed, a target area library in accordance with 674 nystagmus infective genes is established, a high-flux sequencing technique is used by the library for sequencing, infective mutation is sought, and genetics and molecular biology basises are provided for clinical diagnosis. The DNA library disclosed by the invention has the characteristics of being accurate, quick, flexible and low in cost. The 674 gene related in the DNA library disclosed by the invention comprise infective genes of heredity diseases which nearly use nystagmus as clinical manifestation, including X-linked congenital nystagmus, oculocutaneous albinism, ataxia diseases, congenital amaurosis and cataract, and have important significance and clinical value on diagnosis, identification and diagnosis as well as pinpoint treatment of the nystagmus.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and specifically relates to a DNA library for detecting and diagnosing nystagmus-causing genes through a targeted high-throughput sequencing technology and an application thereof. Background technique [0002] Nystagmus (nystagmus, NY) is an involuntary, rhythmic, back-and-forth swinging eye movement. The direction is divided into horizontal type, vertical type, rotation type, etc. The horizontal type is the most common, and the direction of the fast phase is usually used to indicate the direction of the nystagmus. Nystagmus can be found early after birth, with an incidence of about 1 / 1000 to 1 / 1500. As far as nystagmus itself is concerned, it will seriously impair visual function, and the appearance will be affected by the constant trembling of the eyes or the compensatory head position and head swing, which will cause great troubles to the lives of patients. At the same time, nystagmus ca...

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 nystagmus are detected at the same time, not only the workload is huge, but also the detection efficiency is low. 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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