Deletion beta thalassemia detection primers and beta thalassemia detection kit based on SNP analysis and application of deletion beta thalassemia detection kit

Abstract

The invention discloses deletion beta thalassemia detection primers and a beta thalassemia detection kit based on SNP analysis and application of the deletion beta thalassemia detection kit. The sequences of the detection primers are shown as SEQ ID NO.1-14. The detection kit provided by the invention comprises the primers. The detection primers refer to six SNP loci, after a to-be-detected sampleis subjected to PCR amplification, whether beta-globin gene cluster deletion mutation occurs or not is judged according to whether heterozygous types of the sample SNP genotypes exist or not. If theexperiment result shows that heterozygous loci exist in 6 SNPs of the sample, nine kinds of beta-globin gene cluster deletion mutation can be excluded. Otherwise, if the typing detection results of the six SNP loci are all homozygotic types, the sample is quite likely to be subjected to beta-globin gene cluster deletion mutation, resulting in loss of heterozygosity, and it is prompted that furtherclinical detection needs to be conducted. Typing detection to the SNPs by the detection primer and kit is easy and convenient to operate, and the cost is low.

Description

technical field

[0001] The invention belongs to the technical field of genetic engineering, and in particular relates to a detection primer, kit and application of deletion-type β-thalassemia based on SNP analysis. Background technique

[0002] Thalassemia is one of the most common monogenic genetic diseases. Common types of thalassemia include α-thalassemia and β-thalassemia, which are caused by abnormal expression of α-globin gene cluster and β-globin gene cluster, respectively. It is mainly distributed in Southeast Asia. It is estimated that about 1.5% of the world's population (800,000 to 90,000,000 people) are carriers of thalassemia, and at least 60,000 newborns are seriously affected every year, accounting for the vast majority in developing countries. In my country, the area south of the Yangtze River is a high-incidence area of ​​thalassemia, mainly in Guangxi, Guangdong, and Hainan. At present, there is no effective treatment for this disease. Children with severe...

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