DS (Down syndrome) marker protein composition and application thereof

Abstract

The invention discloses an application of protein composition, namely, ERO1L, APCS, OGDHL and NAP1L1 as detection targets of DS. The inventor finds that expression of protein such as ERO1L, APCS, OGDHL, NAP1L1 and the like in the serum of a pregnant woman with a DS fetus increases significantly, and therefore the protein composition has the potential to become an auxiliary diagnostic marker for DS.

Description

technical field [0001] The invention relates to the field of biochemical detection, in particular to a group of Down syndrome marker proteins and related applications. Background technique [0002] Down syndrome (Down Syndrome, DS) is the most common birth defect disease caused by autosomal aberration in children. The incidence of this disease is extremely high in newborns. Patients often present with congenital mental retardation, special facial appearance and physical growth retardation, accompanied by congenital heart disease, low immunity, leukemia and other diseases. DS patients often cannot live well. Self-care, poor social adaptation and labor ability have brought a heavy burden to the family and even the society. [0003] There is no effective treatment for the disease, and it mainly relies on prenatal diagnosis and prenatal screening to reduce the birth of children with Down syndrome. However, the missed detection rate and false positive rate of traditional prenat...

AI Technical Summary

Problems solved by technology

However, traditional prenatal screening has a high rate of missed detection and false positives

Prenatal diagnosis such as amniocentesis, chorionic villus sampling, umbilical cord blood sampling and other methods to obtain fetal cells for culture and further karyotype analysis is the gold standard for prenatal diagnosis of Down syndrome, but all of them are traumatic and easily lead to Complications such as bleeding, infection, and miscarriage