Down syndrome diagnosis involves providing amniotic fluid sample, blood or serum sample of pregnant women or brain tissue sample

摘要

Down syndrome diagnosis involves providing amniotic fluid sample, blood or serum sample of a pregnant women or brain tissue sample. An amount of protein is determined. The detected amount of the protein is compared with standard amount of corresponding protein through protein-mass spectroscopy, two-dimensional gel electrophoresis or mRNA. The down syndrome is diagnosed by providing amniotic fluid sample, blood or serum sample of a pregnant women or brain tissue sample. An amount of protein is determined. The detected amount of the protein is compared with standard amount of corresponding protein. The protein is selected from hematopoietic adaptor containing Src homology 3 domain and a sterile alpha -motifs (HACSl), double-strand-break repair protein rad21 homolog, eukaryotic translation initiation factor 3 subunit 5, mixed lineage leukemia septin-like fusion protein (MSF)-B, heat shock protein 75 (HSP75, also known as TRAP1), beta -amyloid precursor-like protein-1, tropomyosin 4-anaplastic lymphoma kinase fusion oncoprotein type 2, Nck adaptor protein 2, Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 (SGIP1), hematopoietic stem or progenitor cells 140. An independent claim is included for a set for determining amount of two proteins in the sample, which includes a sample container, an agent for detecting mRNAs of proteins, particularly complementary nucleic acids or primers, which amplify the mRNAs, and another agent for determining amount of the detected mRNAs.