G6PD deficiency disease gene detection kit

Abstract

The invention discloses a G6PD (Glucose-6-Phosphate Dehydrogenase) deficiency disease gene detection kit, comprising a gene chip, wherein a mutation detection probe designed for the gene mutation site of glucose-6-phosphate dehydrogenase and a corresponding normal control probe are arranged on the gene chip; the mutation detection probe is at least one sequence among SEQ ID Nos: 1-13 or reverse complementary sequences of the sequences; the normal control probe is at least one sequence among SEQ ID Nos: 4-14 or reverse complementary sequences of the sequences. The G6PD deficiency disease gene detection kit further comprises a group of primers for amplifying the gene sequence of the clinical sample G6PD, wherein the DNA sequences of the primers are as shown in SEQ ID Nos: 25-34. The G6PD deficiency disease gene detection kit is capable of directly diagnosing the genotype of a target to be detected and greatly reducing the rate of missed diagnosis of female heterozygote; and the detection time is shorted to about 3.5 hours so that quick detection of G6PD gene is realized.

Description

technical field [0001] The invention relates to the field of genes, in particular to a gene detection kit for diagnosing human glucose-6-phosphate dehydrogenase (G6PD for short) deficiency. Background technique [0002] G6PD deficiency is the most common hereditary enzyme deficiency disease, commonly known as favism, affecting about 400 million people worldwide. my country is one of the high-incidence areas of this disease. There are about 100 million patients with G6PD deficiency, mainly distributed in the provinces south of the Yangtze River, especially in Hainan, Guangdong, Guangxi, Yunnan, Guizhou, Sichuan and other provinces. The disease is usually asymptomatic, but the patient's red blood cells are easily damaged by certain substances and hemolysis occurs, leading to hemolytic anemia, drug-induced hemolysis, infectious hemolysis, favism, etc., the most serious is neonatal hemolysis, leading to Kernicterus thus develops into lifelong mental retardation or death in ch...

AI Technical Summary

Problems solved by technology

Although these chemical test methods are simple in process and low in price, they are suitable for primary hospitals or general surveys, but their accuracy is not high, especially for female heterozygotes, the detection rate is less than 50%, which may easily lead to missed diagnosis

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