Novel triploid syndrome detection kit, detection method and application

Abstract

The invention provides a novel triploid syndrome detection kit. The novel triploid syndrome detection kit comprises a primer combination, a probe combination, PCR reaction liquid and Taq polymerase, the kit comprises DNA ligase, terminal transferase, dNTPs (deoxyribonucleoside triphosphates) and reaction buffer solution, the sequences of the primer combination are as shown in SEQ ID NO. 1 to SEQ ID NO. 10; the probe combination is a whole genome copy number abnormal probe. According to the invention, the fetus triploid syndrome is safely, noninvasively, accurately, quickly and economically detected from maternal peripheral blood in an ultra-early stage, and a PCR technology is adopted, so that the requirement on the pregnancy time of a pregnant woman is relatively short; the method has the advantages that a pregnant woman of 8-10 weeks can carry out ultra-early screening, the quantity demanded of samples is small, only 2mL of plasma samples are needed, the operation process is simple and rapid, the detection period is short, data analysis is visual and convenient, the cost is only half of that of an NGS method, and non-invasive prenatal ultra-early screening can be completed in a short time.

Description

technical field [0001] The invention relates to the technical field of biochemistry, in particular to a novel triploid syndrome detection kit, detection method and application. Background technique [0002] In recent years, the opening of the national second-child policy has made eugenics and birth defects once again a hot topic of concern to the whole society. Birth defects refer to the abnormal anatomical structure and function of the fetus that existed before birth due to environmental factors, genetic factors, etc., and are found before birth or several years after birth. important reason. Statistics show that about 7 to 8 million newborns with congenital defects are born every year in the world, and about 3.3 million of them die during the perinatal period. my country is one of the countries with a high incidence of birth defects in the world. The birth defect rate in the country is as high as 5.6%. There are about 900,000 new cases of birth defects every year, and th...

AI Technical Summary

Problems solved by technology

Ultrasound screening is easy to miss the diagnosis of chromosomal abnormalities, and there is a high false negative rate.