Phenylketonuria detection primer group, kit and gene mutation detection method

Abstract

The invention discloses a phenylketonuria detection primer group, a kit and a gene mutation detection method. The primer group covering six phenylketonuria related genes PAH, PTS, GCH1, QDPR, PCBD1 and SPR and upstream and downstream 10bp splice sites thereof are provided for the first time. The primer group in a multiplex PCR (polymerase chain reaction) reaction system is high in specificity, lowin primer mutual interference, high in uniformity and high in amplicon expression depth. The phenylketonuria detection primer group, the kit and the gene mutation detection method have advantages ofquickness, comprehensiveness, accuracy and simplicity in operation and are applicable to detection of samples of blood, blood spots, leukocytes and the like. Compared with the prior art, the phenylketonuria detection primer group, the kit and the gene mutation detection method have advantages of wide coverage, more detection sites and high accuracy, can be applied to disease prevention in terms ofphenylketonuria gene mutation detection, carrier detection, genetic counseling and the like and can also be applied to disease treatment guidance.

Description

technical field [0001] The invention belongs to the field of gene biology, and in particular relates to a primer set, a kit and a method for detecting a pathogenic gene of phenylketonuria. Background technique [0002] Phenylketonuria (PKU) is a disease of abnormal amino acid metabolism caused by the lack of phenylalanine hydroxylase (phenylalaninehydroxylase, PAH). Children with phenylketonuria are normal at birth, and symptoms usually begin at 3 to 6 months. The clinical manifestations are usually mental retardation, hair color from black to yellow, and more phenylacetic acid is excreted in urine and sweat. Urine smells. There is currently no effective cure for the disease, and the symptoms can only be alleviated and controlled by diet therapy. Therefore, rapid and accurate detection of pathogenic genes, detection of carriers and genetic counseling are the keys to preventing this disease. [0003] Phenylketonuria is an autosomal recessive genetic disease, the cause of wh...

AI Technical Summary

Problems solved by technology

The existing technology only realizes the point mutation detection system for all exons and regulatory regions of the five genes PAH, GCH1, PTS, QDPR and PCBD1, but it lacks detection sites for the SPR gene, and the coverage is not high enough. However, there are still blind spots, so there is a need for a more comprehensive PKU gene mutation detection method

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