Primers and kit for detecting rare type beta-thalassemia mutation

Abstract

The invention discloses primers and kit for detecting rare type beta-thalassemia mutation; the primers can amplify a nucleic acid sequence containing a beta-globin transcription promoter upstream-90 position (C>T) beta+(HBB:c.-140C>T). The primers and the detection kit can effectively detect rare type beta-globin transcription promoter-90 position (C>T) beta+ heterozygous mutation (HBB:c.-140C>T), provide a corresponding basis for prenatal detection, are used for accurate detection of one gene sequence for detecting the rare type beta-thalassemia, promote function analysis and research of the gene for detecting the rare type beta-thalassemia.

Description

technical field [0001] The invention relates to a gene mutation primer and a kit, in particular to a primer and a kit for detecting rare beta-globin anemia mutations. Background technique [0002] Thalassemia is referred to as "thalassemia" for short, and the English name is "thalassemia". This disease was first discovered by two scientists, Thomas Cooley and Pearl Lee, in the Mediterranean region in 1925, so this disease was named "thalassemia". [0003] In fact, this disease is widely distributed in tropical and subtropical regions, and carriers of the thalassemia-causing gene have certain resistance to malaria. Plasmodium is transmitted by Anopheles mosquitoes, which live in tropical and subtropical regions, so malaria mainly occurs in tropical and subtropical regions. China's Guangdong Province, Guangxi Province, and Hainan Province are located in the tropics, and these places are also the places where malaria occurs most in China. Because carriers of thalassemia have...

AI Technical Summary

Problems solved by technology

Hematological screening combined with genetic diagnosis is currently an important means of screening and diagnosis of thalassemia, but further confirmation depends on DNA analysis of thalassemia genotyping

[0013] 4. Current common detection methods and limitations

Among the current domestic detection methods, among the 17 common mutation sites in the Chinese population, the reverse dot dot (RDB) method is usually used to detect β-globin dysgenesis anemia, which can basically detect most of the β-globin mutations. Thalassemia, but there are many pathogenic variants of the β-globin gene, and the RDB detection method for rare β-thalassemia mutations has great limitations, and such carriers are often missed

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