Whole genome copy number detection chip customized for X chromosome high-density probe

Abstract

The invention provides a whole genome copy number detection chip customized for an X chromosome high-density probe by aiming at a patient with mental development disorder. The genes relevant to the mental development disorder on the X chromosome can be detected in a high density way. The gene chip has the advantages of high sensitivity, high specificity and high reliability. The chip can be scientifically used for screening the inherited pathogenic factor of a child patient with the mental development disorder, and provides the gene diagnosis for the mental development disorder child with unknown reasons in clinics, particularly the boy child, so that the diagnosis rate of the disease is improved; the reliable information is provided for the prognosis and the genetic counseling of the disease.

Description

technical field [0001] The invention relates to the field of a whole-genome copy number detection chip, in particular to a whole-genome chip for detecting copy number variation of patients with mental development disorders. Background technique [0002] Mental developmental disorders (or called neurodevelopmental disorders, neuro-developmental disorders, NDD) is a group of common pediatric disorders, including mental retardation, autism spectrum disorder, learning difficulties, tics, attention deficit, hyperactivity disorder, etc. mental developmental disorder. NDD is the result of the joint action of genetic and environmental factors, and about 25-50% of NDD is caused by genetic factors. Among these genetic factors, 25-30% of mutations may occur on the X chromosome. At the same time, clinical research reports support the view that there are 30% more male patients with NDD than females. The reason is that males have only one X chromosome, and the gene is in a hemizygote st...

AI Technical Summary

Problems solved by technology

[0006] However, commercial chips currently on the market have some disadvantages: due to the limitation of the number of probes on the chip, the mainstream 60K chip (the number of probes on the chip is about 60,000) cannot give priority to disease-related genes and diseases on the X chromosome. Probe design for relevant important genes, or the probe density is too low (the X chromosome probes on the existing conventional chip only account for 4.79% of the whole genome), so the resolution of CNV screening on the X chromosome is extremely low

This leads to an important problem: if the pathogenic genome CNV carried by the patient is too small, it cannot be detected when the common genome CNV chip is used for screening, and a false negative result is reported to the patient, thereby delaying diagnosis and diagnosis

Although some companies have also developed 180K chips (the number of probes on the chip is about 180,000), the resolution has been improved, but the detection of genes related to mental development disorders on the X chromosome is still not targeted, and the 180K chip is expensive. At present, the whole genome chip is a self-funded project, which makes many patients' families unable to afford the cost of this test, and finally choose to give up

In general, the current chips for detecting CNVs do not consider the importance of the X chromosome in mental development, so probe design is not carried out on the X chromosome, resulting in some genetic disease patients failing to complete genetic diagnosis in time

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