Composite chip for rapid prenatal diagnosis of PKU and method

Abstract

The invention discloses a composite chip for rapid prenatal diagnosis of PKU and a method. The composite chip comprises a DNA chip and a micro-fluidic chip; the DNA chip is formed by fixing various point mutation PKU specific diagnostic gene probes on a glass chip; and the surface of the micro-fluidic chip provided with a passage is butted and automatically adsorbed firmly with the surface of the glass chip provided with the point mutation PKU specific diagnostic gene probes by taking a reaction area and a gene probe area as butting points. The method comprises the following steps: extracting DNA in plasma and leucocyte of a pregnant woman, performing amplification on exon genes of the DNA and performing reaction on a primer to obtain a sample; respectively adding the sample, washing fluid and a cleaning solution into a sample cell, a washing fluid cell and a cleaning solution cell of the composite chip; centrifuging the composite chip; and unveiling and discarding the micro-fluidic chip on the glass chip, and observing a result of the reaction of the sample and the reaction area. The composite chip and the method can realize the rapid prenatal diagnosis of the PKU.

Description

technical field [0001] The invention relates to a device and method for rapid prenatal diagnosis of genetic diseases, more specifically, a composite chip and method for rapid prenatal diagnosis of PKU. Background technique [0002] Classical phenylketonuria (Phenyketonuria, PKU) is an inborn error of metabolism caused by a genetic defect in phenylalanine hydroxylase (PAH). Children with PKU have no on-the-spot manifestations at birth due to no intake of phenylalanine. However, with the withdrawal of food, the children continue to experience progressive decline in intelligence, light skin pigmentation, high muscle tension, and seizures. , there is a special odor in sweat and urine, the patient cannot take care of himself, and his mental retardation is severe. At the same time, it causes serious physical and mental burden and economic pressure to the patient's family. Therefore, prenatal diagnosis of this disease is very necessary. [0003] PKU is an autosomal recessive gene...

AI Technical Summary

Problems solved by technology

However, there are still two main problems in the above detection method: 1. The extraction and detection of DNA still need to be further simplified, especially for the detection of female fetal DNA, at least 3 to 5 sites are required for analysis with STRs, which is expensive and still requires Explore an accurate and inexpensive detection method

2. Problems in PCR technology itself

False positives or false negatives may occur through PCR amplification due to possible DNA contamination, allele dropout, etc.

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