In-vitro diagnostic kit for gene mutation of glucose-6-phosphate dehydrogenase (G6PD) deficiency

Abstract

The invention provides an in-vitro diagnostic kit for gene mutation of glucose-6-phosphate dehydrogenase (G6PD) deficiency. The kit comprises SEQ IDNO.1-24. Aiming at six high frequency mutation sites of a G6PD gene, the invention provides a quick in-vitro diagnostic kit for gene mutation of G6PD deficiency, wherein the kit is accurate, good in specificity, high in detection rate, low in cost and good in generalization performance and can differentiate heterozygous and homozygous mutations, thereby providing a quick and reliable molecular diagnostic basis for immediately diagnosing and preventing the G6PD deficiency in gene level. The kit can make a definite diagnosis to the patient within the shortest time, treat immediately suiting the case and avoid further deterioration of the pathogenetic condition, so that the kit not only has important social and economic significance in reducing harm of the G6PD deficiency and reducing the economic and spiritual burden of families, but also has high clinical popularization and application value and wide market prospect.

Description

Technical field [0001] The invention relates to a diagnostic kit, which is used for the in vitro diagnosis of glucose-6-phosphate dehydrogenase deficiency gene mutations. Background technique [0002] Glucose-6-phosphate dehydrogenase (Glucose-6-phosphatedehy Drogenase, G6PD) deficiency is a common X-linked incomplete dominant genetic disease and one of the most common enzyme deficiency diseases in humans. The incidence of G6PD deficiency in my country is about 4% to 15%, and it is as high as 40% in some areas. It is common in southwest my country (Chongqing, Sichuan and Guizhou) and several provinces in southern China (Guangdong, Guangxi, Hainan, etc.). [0003] G6PD is the initiation enzyme of pentose phosphate bypass metabolism that exists in all cells and tissues. It provides pentose sugars for nucleic acid synthesis and reduced coenzyme II (NADPH) for various biosynthesis and maintenance of hemoglobin and red blood cell membranes. The stability. G6PD deficiency not only affe...

AI Technical Summary

Problems solved by technology

Some of the existing methods such as single-strand conformation polymorphism analysis (SSCP), denaturing gradient gel electrophoresis (DGGE), temperature gradient gel electrophoresis (TGGE), high performance liquid chromatography (DHPLC), DNA Direct sequencing, etc., although the detection accuracy is high, its clinical application is limited due to factors such as high cost, complicated procedures, and long time-consuming; while some other approved methods, such as the allele-specific amplification method (ARMS- PCR), PCR mismatch restriction enzyme digestion method, allelic oligonucleotide probe hybridization (ASO) method, there are still either low efficiency, high missed detection rate or high false positive rate; or too few detection sites, Unable to distinguish heterozygous or homozygous mutations and many other limitations, resulting in many G6PD deficiency patients not being diagnosed or misdiagnosed in time, limiting clinical timely treatment, and missing the opportunity for early intervention

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