Alpha-thalassemia screening kit and application thereof in prenatal screening

Abstract

The invention discloses an α-thalassemia screening kit and its application in prenatal screening, belonging to the technical field of α-thalassemia prenatal screening. The α-thalassemia screening kit includes: (1) Negative control sample; (2) Positive control sample; (3) PCRMasterMIX; (4) PCR primers. Its application uses designed primers to amplify fetal DNA in the peripheral blood of pregnant women to achieve prenatal screening for α-thalassemia. The present invention collects the peripheral blood of pregnant women for prenatal screening of α-thalassemia, without puncturing the amniotic cavity and inserting villi tissue, without any trauma to the fetus, and is safe and reliable; the accuracy rate can reach 99.99%, filling the non-invasiveness of α-thalassemia The technical gap in prenatal screening reduces the birth rate of sick children.

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...

AI Technical Summary

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

Images