Kit and method for integrally and comprehensively detecting five complex genetic diseases

Abstract

The invention provides a method and a kit for integrally and comprehensively detecting five complex genetic diseases. The detection method and the kit are used for detecting all common known pathogenic variations of related genes of Duchenne muscular dystrophy, thalassemia, spinal muscular atrophy, hereditary hearing loss and congenital adrenal hyperplasia. According to the invention, only one experiment and one technical platform are needed to simultaneously detect single exon level copy number deletion / repetition and common clinical related known pathogenicity single nucleotide variation of the disease, so that the defects that a plurality of technical platforms are needed to be combined, the diagnosis efficiency is low and the detection cost is high in the existing gene detection method can be effectively overcome; the standardization degree of clinical detection of the diseases by doctors can be remarkably improved, and an integrated, high-timeliness, high-accuracy and high-operability molecular diagnosis method is provided for diagnosis and genetic intervention of similar complex genetic diseases, so that the diagnosis, treatment, prognosis and genetic counseling levels of the diseases are remarkably improved.

Description

technical field [0001] The invention belongs to the field of comprehensive prevention and treatment of birth defects and genetic diseases, and in particular relates to a kit and method for integrated and comprehensive detection of five complex genetic diseases. Background technique [0002] Complex genetic diseases refer to genetic diseases with multiple pathogenic genes, large gene length, multiple gene pathogenic mechanisms, and highly homologous genes. It is usually difficult to be accurately identified and effectively diagnosed by a single clinical detection technology, because the current single Clinical detection techniques have deficiencies in the scope of detection, and it is often necessary to use multiple techniques in combination to diagnose such genetic diseases. [0003] About 70% of the mutations in the Duchenne muscular dystrophy DMD gene are exon level copy number variation Exon_CNV, single nucleotide variation SNV sites in the exon region and flanking region...

AI Technical Summary

Problems solved by technology

[0024] An object of the present invention is to provide an integrated test kit for the comprehensive detection of Duchenne muscular dystrophy, thalassemia, spinal muscular atrophy, hereditary deafness and congenital adrenal hyperplasia. Comprehensive detection of all common known pathogenic variant types at the single-exon level of a complex disease, effectively overcoming the low throughput of existing clinical molecular diagnostic technologies such as MLPA, real-time PCR and Sanger sequencing, requiring the combined use of multiple technologies Only complex genetic diseases can be diagnosed, the diagnosis speed and efficiency are low, and the patient's family is under great economic pressure. The kit includes two sets of probe sets, exon_cnv and gene_variants;

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