Kit for multiplex real-time quantitative PCR (polymerase chain reaction) detection of chromosome aneuploid and application of kit

Abstract

The invention discloses a kit for multiplex real-time quantitative PCR (polymerase chain reaction) detection of chromosome aneuploid and application of the kit. The kit comprises n1 primer pairs used for amplifying multiple genes and non-genetic locus of a target chromosome and related probes and n2 primer pairs used for amplifying multiple genes and non-genetic locus of a reference chromosome and related probes, wherein the target chromosome is a chromosome subject to chromosome quantitative variation diseases, the reference chromosome is one or multiple chromosomes, and n1 and n2 are greater than or equal to 1 respectively. The kit can be used for noninvasive prenatal screening of Down's syndrome, Edward's syndrome, PaDow's syndrome and other chromosome abnormality diseases of pregnant women. The kit has the advantages of early stage, safety, noninvasiveness, accuracy, quickness and suitability for large-scale detection and clinical application, intrauterine infection, abortion and death of fetuses at middle and late stages of pregnancy of women can be avoided, and the objective of bearing and rearing better children is achieved.

Description

Technical field [0001] The present invention belongs to the field of biomedical technology, and specifically relates to a multiplex real-time quantitative PCR (Multiplex real-time quantitative PCR, mqPCR) detection of chromosome aneuploidy using early, safe, non-invasive, accurate, fast, suitable for large-scale detection and clinical application The kit and its application. The kit performs non-invasive prenatal testing (NIPT) for normal pregnant women, including Down syndrome, Edward's syndrome, Patau's syndrome and other polyploid chromosomal diseases. Background technique [0002] There are about 900-1.2 million new birth defects in China each year, accounting for about 4-6% of the total number of births. Of the more than 80 million disabled people, about 30 million are caused by birth defects. Birth defects have become an important cause of illness, disability and even death in children, among which chromosomal abnormalities are the main diseases. Pre-pregnancy and early ...

AI Technical Summary

Problems solved by technology

[0007] 1. The amplification of the target chromosome and the reference chromosome is limited to a single gene locus, so the sensitivity of the PCR reaction is reduced

[0008] 2. Only chromosome 21 can be used as the target chromosome, and other autosomes can be used as the reference chromosome, so only trisomy 21 can be detected, and the detection range is relatively limited

[0009] 3. The method of enriching fetal DNA is more complicated

[0010] 4. Only one fluorescence intensity threshold is used for PCR reaction in the same tube, and the accuracy of PCR reaction is not high

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