DNA chip for diagnosing phenylketonuria

Abstract

A DNA chip for diagnosing the phenylketonuria (PKU) features that an array of 6X4 DNA probes with 6-30 amino connecting arms of T base for detecting the gene mutation of phenylalamine hyroxylase is immobilized in a predefined area on the surface of glass, silicon chip, film, or high-molecular material, so the gene mutations at the sites R111X, Y204C, R243Q, W326X, Y356X and R419P can be simultaneously detected.

Description

technical field [0001] The invention relates to a DNA diagnostic chip, in particular to a DNA chip for the diagnosis of phenylketonuria. Background technique [0002] Phenylketonuria (phenylketonurian, PKU) is a congenital genetic metabolic disease, an autosomal recessive genetic disease. Due to the gene mutation of phenylalanine hydroxylase in the child, the metabolism of phenylalanine in the liver is disturbed, leading to severe mental retardation and even death. The incidence rate in Europe and the United States is 1 / 10000, in my country it is 1 / 16000, and the heterozygote frequency is 1 / 50. [0003] Due to the lack of phenylalanine hydroxylase in children with PKU, a large amount of phenylalanine accumulates in the body, and a series of toxic metabolites are produced through bypass metabolic pathways, resulting in a series of obvious symptoms of poisoning in children. When the child was just born, he had no clinical manifestations due to no intake of phenylalanine. As ...

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Problems solved by technology

[0007] However, since the phenylalanine hydroxylase gene is only specifically expressed in liver cells, blood cells, amniotic fluid, and villi cells cannot be used to detect enzyme activity, so only gene mutation analysis can be performed

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