Probe composition, gene chip, reagent, kit and application

By designing probe compositions and gene chips targeting 34 target genes, the problem of screening fetuses with dominant single-gene diseases without ultrasound abnormalities or with soft ultrasound indicators has been solved, enabling early and accurate prenatal diagnosis.

CN122012688APending Publication Date: 2026-05-12CENT SOUTH UNIV
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Patent Information

Application Number
CN202610029566.X
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Priority Date
2025-01-10
Filing Date
2026-01-09
Publication Date
2026-05-12

AI Technical Summary

Technical Problem

There is a lack of mature prenatal screening technologies to detect fetuses with dominant single-gene disorders that show no ultrasound abnormalities or only soft ultrasound indicators, especially diseases such as neurodevelopmental disorders.

Method used

A probe composition containing conventional and InDels mutant probes targeting 34 target genes has been designed for detecting dominant single-gene genetic diseases, including Bainbridge-Ropers syndrome, using gene chips and kits for fetal DNA testing.

Benefits of technology

It enables early screening of fetuses with dominant single-gene diseases without ultrasound abnormalities or with soft ultrasound indicators, improving the accuracy and coverage of prenatal diagnosis, especially the ability to detect dominant single-gene diseases.

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Abstract

The invention provides a probe composition, a gene chip, a reagent, a kit and application. The probe composition is designed based on capture areas of 34 genes related to dominant single-gene genetic diseases, can be used for non-invasive prenatal genetics screening, and is suitable for prenatal screening of genetic variation positive family history, bad fertility history, fetal ultrasound examination abnormality, pregnant woman elderly, father elderly and the like. The omission ratio and the birth rate of fetuses suffering from the dominant single-gene hereditary disease are effectively reduced.
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