Fetal DNA (deoxyribonucleic acid) chip and application thereof

Abstract

The invention discloses a fetal DNA (deoxyribonucleic acid) chip and an application thereof. The fetal DNA chip comprises a solid phase carrier and oligonucleotide probe lattices fixed on the solid phase carrier, wherein the oligonucleotide probes comprise oligonucleotide sequences corresponding to genes related to 125 common fetal genetic or birth defect diseases in the gestation period; the 125 diseases include 1q21.2 deletion or repetition, 1q41-q42 fragment deletion and the like. The fetal DNA chip can be used for constructing a prenatal genetic screening system, has the characteristics of parallel analysis and multiple analysis, can be used for simultaneously detecting genetic variation related to 125 diseases, has high pathogenic interval resolution and disease detection accuracy and good reliability, can be used for accurately predicting and molecularly diagnosing common genetic diseases and birth defects caused by gene copy number abnormity at the early stage of pregnancy, is suitable for clinical application, can be used for mainly monitoring and effectively intervening in fetuses with diseases, and is favorable for further reducing the incidence of birth defects.

Description

technical field [0001] The invention relates to a gene chip, in particular to a fetal DNA chip for prenatal genetic screening and its application. Background technique [0002] With the completion of the "Human Genome Project", a major breakthrough has been made in the study of the nature of life and disease, which has promoted the progress of modern genetic testing methods, enabling people to detect chromosomal aberrations and microchromosomal abnormalities in abnormal fetuses in the early stages of pregnancy. Pre-diagnosis, to prevent the birth of children. Currently, chromosome banding, comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) are the main methods for analyzing chromosomal aberrations. However, due to birth defects, multiple aberrations and submicroscopic aberrations often exist in the chromosomes of children, such as congenital heart disease, autism, mental retardation, congenital multiple malformations, etc. Copy number abn...

AI Technical Summary

Problems solved by technology

However, the aforementioned 44K and 244K chips still have many shortcomings. For example, these chips also cover some non-pathogenic gene copy number variation (CNV) segments. Although the overall number of probes is large, they are distributed to specific genes (especially The probe density on common pathogenic genes) is relatively low, which cannot meet the needs of "high accuracy and precision" in clinical sample detection

Although the above-mentioned 1M chip covers more gene copy number variation segments and the probe density has increased to a certain extent, it covers too many redundant intervals, which greatly increases the uncertainty of diagnostic results and the difficulty of clinical interpretation. It meets the needs of prenatal clinical testing very well, especially because its cost is very expensive and it is difficult to carry out large-scale application

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