DNA library for detecting and diagnosing pathogenic genes of multiple cafe-au-lait macules related diseases and application thereof

Abstract

The invention relates to a DNA library for detecting and diagnosing pathogenic genes of multiple cafe-au-lait macules related diseases and the application thereof. The library includes 51 pathogenic genes of multiple cafe-au-lait macules related diseases. According to the invention, 51 pathogenic genes of multiple cafe-au-lait macules related diseases are selected, a probe pool is designed, and atarget region library for the 51 pathogenic genes of multiple cafe-au-lait macules is established. The library is used to perform sequencing and find pathogenic mutations by a high-throughput sequencing technology, provides genetic and molecular biological basis for clinical diagnosis, and is accurate, fast, flexible and low-cost. The 51 gene detection regions involved in the invention can detecta variety of multiple cafe-au-lait macules related diseases such as genetic pigment abnormality, Cowden syndrome, ataxia telangiectasia, Noonan syndrome, etc. The DNA library provided by the inventionhas important significance and clinical value for the etiology analysis and differential diagnosis of multiple cafe-au-lait macules.

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 multiple milk coffee spots related diseases through targeted high-throughput sequencing technology and its application. Background technique [0002] Coffee milk spots, also known as coffee spots, are similar to the color of coffee mixed with milk. They are a common pigmentation skin disease. 10% to 20% of normal people can see one or more milk coffee spots at birth. The color of milk coffee spots ranges from light brown, tan to dark brown, but the color of each piece is the same and very uniform. The shade is not affected by the sun. The size is from several millimeters to tens of centimeters, with clear borders, and the surface skin texture is completely normal. [0003] Multiple milk coffee spots refer to the appearance of multiple milk coffee spots on the skin. The appearance, increase or enlargement of m...

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Problems solved by technology

[0004] At present, clinical laboratories mostly use the traditional Sanger sequencing method to detect gene mutations. However, if many genes related to café-au-lait spots are detected at the same time, not only the workload is huge, but also the detection efficiency is low, and more importantly, precious resources are wasted. DNA samples significantly increase the detection cost of genetic diagnosis, which seriously restricts its large-scale application in clinical molecular diagnosis

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