A nucleic acid composition for detecting α-thalassemia, its gene chip, its kit and its application

Abstract

The invention discloses a nucleic acid composition for detecting α-thalassemia, its gene chip, its kit and its application, and relates to the field of biotechnology. The nucleic acid composition includes a probe combination 1, a probe combination 2 and a probe Combination 3, can simultaneously detect 10 α-thalassemia genotypes, deletion α-thalassemia genotypes (‑‑ SEA ,-α 3.7 ,-α 4.2 ,-‑ THAI ,-‑ FIL ) and non-deletion α‑thalassemia genotypes (including 3 point mutation α‑thalassemia genotypes (α CS α, α QS α, α WS α) and triplet α‑thalassemia genotype (ααα anti3.7 , ααα anti4.2 ), the Tm values ​​of each probe are similar, and the hybridization reaction with the sample can be carried out at the same time, and the hybridization result will not be affected by the temperature problem, and the detection accuracy is good.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a nucleic acid composition for detecting α-thalassemia, its gene chip, its kit and its application. Background technique [0002] Thalassemia (thalassemia for short) is a hemolytic anemia caused by an imbalance in the synthesis rate of α, β-globin peptide chains due to human gene mutation or deletion. Thalassemia is one of the most common genetic diseases in the world, and it is widely distributed in Mediterranean countries and other areas where malaria used to be high. The two common types of thalassemia are α-thalassemia and β-thalassemia, but the carrier rate of α-thalassemia is much higher than that of β-thalassemia. [0003] α-thalassemia is a chronic hemolytic disease caused by autosomal genetic defects, loss or dysfunction of the α-globin gene, resulting in reduced or no synthesis of the α-globin peptide chain. The α-globin gene is located in the α-globin gene cluster at the...

AI Technical Summary

Problems solved by technology

[0012] Traditional clinical hematological detection methods for α-thalassemia, such as routine parameter detection and analysis, erythrocyte osmotic fragility test and hemoglobin stability test, etc., have low specificity and are prone to false negatives; while peptide chain analysis, HPLC, ELISA and other detection methods Due to single detection and cumbersome operation, it is being replaced by genetic testing with increasingly mature technology

[0013] The traditional genetic diagnosis technology mainly adopts the Southern blot hybridization method, which has high sensitivity and high accuracy, but it is only used for research and cannot be used for large-scale screening because of the long operation time, large amount of DNA required, and the need for isotopes.

Compared with traditional Southern molecular hybridization, ordinary PCR electrophoresis technology is simple, fast, accurate, economical and easy to promote. It provides a more effective method for α-thalassemia gene diagnosis, but its specificity is low and it cannot be detected. Common CS, QS, WS point mutations, and prone to false negative or false positive

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