Probe composition and kit for screening genetic disease pathogenic gene carriers and preparation method of probe composition and kit

Abstract

The invention provides a probe composition and a kit for screening genetic disease pathogenic gene carriers and a preparation method of the probe composition and the kit. The probe composition specifically captures pathogenic genes of genetic diseases, and the genetic diseases comprise alpha-thalassemia, beta-thalassemia, spinal muscular atrophy, hepatolenticular degeneration and methylmalonic acid cblC type. The invention provides a probe combination which is accurate, reliable, simple and economical, can be used for screening carriers of various genetic disease pathogenic genes at the same time, and is convenient for popularization and clinical application of screening of carriers of common genetic diseases.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a probe composition, a kit and a preparation method for screening genetic disease-causing gene carriers. Background technique [0002] Monogenic genetic diseases refer to genetic diseases controlled by a pair of alleles, such as spinal muscular atrophy (SMA), thalassemia, hepatolenticular degeneration, methylmalonic acidemia, etc. There are many types of monogenic genetic diseases, more than 9,000 types have been discovered so far (http: / / www.omim.org / statistics / entry), and the combined incidence rate is as high as 1 / 100 (https: / / www.who.int / genomics / public / geneticdiseases / en / index2.html, most monogenic diseases cause death, deformity or disability, only 5% have effective treatment drugs (ORPHAN DRUG REPORT 2014), and the treatment costs are expensive. Studies have shown that the average Each normal person carries 2.8 pathogenic variants of recessive genetic diseases (Be...

AI Technical Summary

Problems solved by technology

[0003] At present, there are no kits suitable for phenotypically normal populations that can simultaneously screen carriers of multiple single-gene disease genes, and a few kits based on next-generation sequencing and probe capture, the uniformity of probe capture poor

Moreover, the selection of the capture region of the probes in the existing related kits is inappropriate, and there are too many capture regions, resulting in a large number of probes and high detection costs

And a small number of kits used for the screening of carriers of monogenic diseases cover a single disease. For example, the screening kit for carriers of SMA pathogenic genes uses the fluorescent quantitative PCR method. These products have limited disease screening, and the detection methods exist. Defects of low sensitivity and specificity

Most of the common single-gene detection kits on the market are intended for clinical diagnosis of patients. These kits generally use traditional detection methods, such as Gap-PCR, PCR-RDB, realtime PCR and sanger sequencing for thalassemia detection etc. SMA mutation detection methods include QPCR, multiple ligation probe amplification (MLPA), etc., which have defects such as low throughput, low sensitivity, and limited detection range, and are not suitable for carrier screening of large populations.

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