Kit for rapidly detecting five beta-thalassemia mutations and application thereof

Abstract

The invention discloses a kit for rapidly detecting five beta-thalassemia mutations and application thereof, and belongs to the field of disease detection products. The kit comprises an amplification primer pair of five common mutation sites of beta-thalassemia genes and also comprises 2xconc.Master Mix and magnesium ion. The application comprises the following steps: performing polymerase chain reaction (PCR) amplification on an analysis sample by using the kit, performing high resolution melting curve analysis, and comparing with a positive melting curve of the five mutation sites so as to determine whether mutations and mutation types exist in the five sites. The kit can simultaneously detect one or combination of more than one in the five mutation sites, comprising -28, CD17, CDs41 / 42, CDs71 / 72 and IVS-II-654, of the beta-thalassemia mutation, specific probes and sequencing are not needed, the needle sample amount is small, and the kit is rapid in detection, accurate and low in cost and is suitable for large-scale detection.

Description

technical field [0001] The invention belongs to the field of disease detection products, in particular to a kit for rapidly detecting five β-thalassemia mutations and its application. Background technique [0002] β-thalassemia is a hereditary hemolytic anemia characterized by β-globin peptide chain synthesis disorder due to β-globin gene mutation, and it is one of the genetic diseases with the highest incidence and the greatest impact in southern my country. So far, more than 200 kinds of β-globin gene mutations have been reported in the world, and more than 30 kinds have been found in my country, among which five mutations -28, CD17, CDs41 / 42, CDs71 / 72, and IVS-Ⅱ-654 account for More than 90% of the mutations in the β-globin gene in my country have been detected. Patients with β-thalassemia have different clinical severity according to the degree of β-globin chain synthesis: mild patients are asymptomatic or have only mild anemia, and clinical diagnosis is easy to be misse...

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Problems solved by technology

[0005] The Chinese patent with the application number 201210382305.4 discloses "Kit and method for detecting mutant a-thalassemia gene by HRM method". The kit can detect six kinds of mutant a-thalassemia at the same time. Patent report on detection of β-thalassemia gene mutation by rate melting curve (HRM)

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