Whole-chromosome genotyping chip for synchronously detecting multiple birth defect genetic diseases and method and application of whole-chromosome genotyping chip

Abstract

The invention provides a chip for synchronously detecting whole chromosome genotyping of various birth defect genetic diseases as well as a method and application thereof. The chip is used for detecting various birth defect genetic diseases caused by gene copy number variation and single nucleotide variation. On the basis of gene copy number variation probes which are horizontally covered by a whole genome, unimportant regions of the genome are selected in a targeted manner to reduce or not design the probes, and related haploid dose deficiency and triploid dose sensitive pathogenic genes are encrypted in a targeted manner; probes are designed at related single nucleotide variation sites of related common birth defect genetic disease genes, and the density of probes in corresponding gene regions is increased, so that detection of copy number variation of unknown genes in clinical significance is reduced, detection of pathogenic gene single nucleotide variation is increased, high performance of a traditional chip is extended, and detection effectiveness is improved. The clinical diagnosis, treatment, prognosis and genetic counseling levels of birth defect related gene copy number variation and mononucleotide variation diseases are improved.

Description

technical field [0001] The invention belongs to the field of comprehensive prevention and treatment of birth defects, in particular to a whole-chromosomal genotyping chip for synchronous detection of multiple birth defects and hereditary diseases, as well as its method and application. Background technique [0002] There are about 900,000 new cases of birth defects in my country each year, about 80% of which are caused by genomic mutations, involving many types of mutations, complex phenotype symptoms, and difficult clinical diagnosis, which is one of the main causes of disability and death in postpartum children. Among them, about 24.3% are microdeletion and microduplication syndromes caused by gene copy number variation (CNV), including many unexplained intellectual disabilities, growth retardation, autism and multiple congenital anomalies; about 17.4% are severe The pathogenesis of monogenic genetic diseases is single nucleotide variation (SNV), which broadly includes poi...

AI Technical Summary

Problems solved by technology

Based on SNV-array technology, the genome_framework probe set was designed for 16 single genes and 350 published pathogenic haploinsufficiency (HI) genes and triple dose-sensitive (TS) genes. At the same time, the genome_framework probe set On this basis, the special_gene probe set was further designed for the pathogenic single nucleotide variation (SNV) of 190 important birth defect genetic disease genes. Through this design, it can effectively overcome the existing detection methods that can only detect a single gene Insufficient copy number variation (CNV) / single nucleotide variation (SNV), realizing simultaneous detection of gene copy number variation (CNV) and single nucleotide variation (SNV) that cause birth defects

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