Application of circRNA marker for diagnosing thalassemia

Abstract

The invention discloses an application of a circRNA marker for diagnosing thalassemia, and belongs to the technical field of biology. The circRNA marker is hsa-circc-0129875 as shown in SEQ ID NO: 1,and the nucleotide sequence of the circRNA marker is shown in SEQ ID NO: 2. According to the circRNA marker provided by the invention, early diagnosis of thalassemia is realized; according to the invention, the circRNA marker and clinical examination indexes (HCT, MCV, MCH and MCHC) are combined to diagnose thalassemia. According to the invention, results show that the sensitivity of AUC diagnosedby combining hsa-circ-0129875 with clinical examination indexes is superior to that of AUC diagnosed by single circRNA, the area under an AUC curve is maximum, the sensitivity reaches 85% or above, and the specificity reaches 90% or above. The circRNA marker has the advantages of strong characteristics, strong sensitivity and stable result, provides a theoretical reference basis for the diagnosisof thalassemia, and has a wide clinical application prospect.

Description

technical field [0001] The invention belongs to the field of biotechnology and relates to the application of a circRNA marker for the diagnosis of thalassemia. Background technique [0002] Thalassemia, also known as thalassemia, is a relatively common genetic disease in southern my country, among which α and β thalassemias are more common. In Guangxi, Guangdong, Guizhou, Yunnan, and Hainan in southern my country, the frequency of thalassemia gene mutation carriers is relatively high. According to different clinical manifestations, it can be divided into severe, intermediate and light. In particular, most of the fetuses of thalassemia major die at birth. Even if it is treated, it will bring a huge burden to the family. There is currently no ideal treatment for thalassemia, so it is necessary to carry out prenatal screening and genetic diagnosis. The current diagnostic method for thalassemia is blood phenotype screening first, and then genetic diagnosis. The laboratory need...

AI Technical Summary

Problems solved by technology

The current diagnostic method for thalassemia is blood phenotype screening first, and then genetic diagnosis. The laboratory needs to detect the common α-thalassemia and β-thalassemia separately. The detection of α-thalassemia is mainly based on the Gap -PCR, β-thalassemia detection uses reverse dot hybridization technology, but these conventional techniques have certain limitations, which have a certain impact on the detection rate of thalassemia

However, gene sequencing faces problems such as cumbersome operations and expensive instruments, so there are still problems of missed and misdiagnosed thalassemia detection

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