Kit for integrated detection of alpha and beta mutant type thalassemias

Abstract

The invention relates to a kit for integrated detection of alpha and beta mutant type thalassemias, in particular to a kit for detecting alpha and beta thalassemias mutant types by using multiple asymmetric amplification and reverse dot blot hybridization techniques. The kit of the invention consists of a polymerase chain reaction (PCR) reagent, a low-density chip and a hybridizing reagent, and contains a set of specific nucleotide polymorphism probes and PCR primers for amplifying target gene in an amplification sample. The kit can be used for detecting six alpha thalassemia locus mutations and 27 beta thalassemia mutations, which are common in China, at the same time. The detection process of the kit is faster and the detection result of the kit is more accurate, so the kit is expected to be widely used in diagnosis of thalassemia in clinic and instruction on sound child rearing.

Description

technical field [0001] The present invention relates to a kit for the integrated detection of α and β mutant thalassemias, in particular to a kit for detecting α and β thalassemia mutants using multiple asymmetric amplification and reverse dot hybridization techniques. The box contains a set of specific nucleotide polymorphism probes and PCR primers for amplifying the target gene in the sample, which can simultaneously detect α and β thalassemia caused by point mutations, and will be widely used in the detection of thalassemia and prenatal and postnatal care guide. Background technique [0002] Thalassemia is divided into several types such as α, β, δ, δβ, γδβ, etc. The common ones are α-thalassemia (abbreviated as α-thalassemia) and β-thalassemia (abbreviated as β-thalassemia), which are the most common and most harmful in the southern provinces of my country. It is one of the most common genetic diseases in the world. According to WHO statistics, there are more than 150 m...

AI Technical Summary

Problems solved by technology

The commercialization of these two patents is difficult because they both have common deficiencies: the 27 types of mutations found in China cannot be detected, and the probe design requires a large number of probe screening to obtain satisfactory results; Amplify the β-Globin gene into two segments, one of which is about 600bp, and the other is about 400bp

Guo Xuemin and others disclosed "a method for designing oligonucleotide probes" (publication number: CN 1461811A), which is to design one or more artificial mutations outside the mutation site to form double mutation or multiple mutation sites, But this still cannot effectively distinguish the G.G mismatch formed after C→G

Images