Proteins with prognostic, diagnostic and therapeutic importance in trisomy 21 (Down syndrome)

摘要

We report on the identification of seven (7) proteins showing quantitative and/or qualitative differences in amniotic fluid samples obtained from women carrying fetuses with Trisomy 21 (Down syndrome) as compared to those obtained from women carrying chromosomally normal ones. Proteins identified include CA11 (P02452), CA13 (P02461), CA15 (P20908), PGBM (P98160), SFRS4 (Q08170), AMBP (P02760), and IBP1 (P08833). These proteins, as whole molecules or parts of their amino acid sequence, represent as a total or each one separately or in different combinations, targets and can be used as markers for prognosis and/or diagnosis of Trisomy 21. Additionally, these proteins or their fragments, as a total or each one of them or in combinations could be therapeutic targets and could be used for the treatment of Trisomy 21 in utero or postnatally.