PKU (Phenylketonuria) pathogenic gene mutation detection method and device based on semiconductor sequencing

Abstract

The invention discloses a PKU (Phenylketonuria) pathogenic gene mutation detection method and device based on semiconductor sequencing. A local mutation database is constructed to comprehensively reflect background noise which possibly exists in a detection range and true and false positive results of mutation can be effectively distinguished; the problem that the background noises of PKU detection are great, caused by inherent homopolymerize basic group sequencing errors of a semiconductor sequencing platform, is solved; influences of different batches sequencing quality can be controlled relatively well and the accuracy and stability of detection are improved; the PKU pathogenic gene mutation detection method and device are especially suitable for a Proton platform.

Description

technical field [0001] The invention belongs to the field of bioinformatics, and in particular relates to a semiconductor sequencing-based PKU pathogenic gene mutation detection method and device. Background technique [0002] Phenylketonuria (PKU) is a disease of abnormal amino acid metabolism caused by the lack of phenylalanine hydroxylase (phenylalaninehydroxylase, PAH). Children with PKU 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, and there may be obvious mouse urine odor. . 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] PKU is an autosomal recessive genetic disease. ...

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Problems solved by technology

[0005] However, the current semiconductor sequencing is prone to homogeneous base sequencing errors, which will generate large background noise when used to detect PKU pathogenic gene mutations. In addition, DMSO must be used when constructing PKU pathogenic gene libraries, which affects PCR. The fidelity efficiency of the amplification increases the background noise. Moreover, in the actual detection of PKU pathogenic genes based on semiconductor sequencing, the quality of different batches is unstable. The above reasons make the detection accuracy of PKU pathogenic gene mutations low. Difficulty effectively distinguishing false negatives from mutations

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