Alpha-thalassemia screening kit and application thereof in prenatal screening

Abstract

The invention discloses an alpha-thalassemia screening kit and application thereof in prenatal screening and belongs to the technical field of prenatal screening of alpha-thalassemia. The alpha-thalassemia screening kit comprises a negative control sample, a positive control sample, PCRmasterMIX, and a PCR primer. Application of the alpha-thalassemia screening kit includes: amplifying fetal DNA in maternal peripheral blood by the designed primer so as to perform prenatal screening on alpha-thalassemia. The maternal peripheral blood is collected for prenatal screening of alpha-thalassemia, with no need for puncturing the amnion cavity and inserting pile tissue and with no injury to fetus, and the alpha-thalassemia screening kit is safe and reliable; accuracy is up to 99.99%; the technical blank of noninvasive prenatal screening of alpha-thalassemia is filled, and fewer children with diseases are born.

Description

technical field [0001] The present invention relates to prenatal screening for α-thalassemia. Background technique [0002] Thalassemia, also known as thalassemia, is a group of genetic diseases. Its pathogenesis is that the globin chain of synthetic hemoglobin is reduced or missing, which leads to abnormal structure of hemoglobin. The deformability of red blood cells containing abnormal hemoglobin is reduced, and the life span is shortened. It can be destroyed by the liver and spleen in advance, leading to anemia and even abnormal development. This disease is medically known as hemolytic anemia. [0003] α-thalassemia: The human α-globin gene cluster is located at 16Pter-p13.3, each chromosome has 2 α-globin genes, and a pair of chromosomes has a total of 4 α-globin genes. Most α-thalassemias (abbreviated as α-thalassemia) are caused by the deletion of the α-globin gene, and a few are caused by gene point mutations. If only one α gene on one chromosome is missing or defe...

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Problems solved by technology

[0007] At present, the commonly used methods for the diagnosis of thalassemia include: Southern hybridization, multiplex Gap-PCR, multiplex ligase-dependent probe amplification (MLPA), PCR-oligonucleotide probe (ASO) method, real-time fluorescent quantitative PCR , dot hybridization, direct sequencing technology, etc. The above diagnostic technologies are based on cytogenetic diagnosis based on invasive procedures such as amniocentesis and chorionic villi aspiration. Although the diagnosis is accurate, it is easy to cause intrauterine infection due to traumatic operation , miscarriage, or even have a certain impact on the fetus, which is an invasive examination

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