Early, prenatal diagnosis of Down syndrome, comprises detecting abnormal levels of specific proteins in fetal cells from amniotic fluid or blood, or in brain tissue

摘要

A method for diagnosis of Down syndrome (DS), comprsing detecting the levels of phosphoinisitolglycan peptide (PIG-P; DSCR5); DCSR6 and potassium inwardly rectifying channel protein KIR3.2 (GIRK2) (DSCRP = Down syndrome critical region protein), is new. Method for diagnosis of Down syndrome (DS) comprises: (a) providing a sample of amniotic fluid, blood or serum from a pregnant woman or a brain tissue sample; (b) determining the amount (x) of at least one of the proteins phosphoinisitolglycan peptide (PIG-P; DSCR5); DCSR6 and potassium inwardly rectifying channel protein KIR3.2 (GIRK2) (DSCRP = Down syndrome critical region protein); (c) comparing x with the standard amount (y) for the proteins in a corresponding non-DS sample; and (d) diagnosing DS if x is lower than y for GIRK2 or x is higher than y for the other two proteins. An independent claim is included for a kit for determining the amount of at least two of the specified proteins comprising a sample container; agents (especially antibodies) for detecting the proteins and agents for quantifying the amount of detected proteins.