Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down’s syndrome subjects

• Published in: Journal of genetics Vol. 93; no. Suppl 1; pp. 18 - 23
• Main Authors: SALEMI, MICHELE, BARONE, CONCETTA, ROMANO, CORRADO, ZOLEZZI, FRANCESCA, ROMANO, CARMELO, SCAVUZZO, CATALDO, SALLUZZO, ROBERTO, SCILLATO, FRANCESCO, SIGNORELLI, MARIA, KAPETIS, DIMOS, SALLUZZO, MARIA GRAZIA, BOSCO, PAOLO
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01.12.2014; Springer Nature B.V
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Down syndrome; Evolutionary Biology; Gene expression; Genetic research; Genotype & phenotype; Life Sciences; Microbial Genetics and Genomics; Online Resources; Plant Genetics and Genomics; Polymerase chain reaction; Down’s syndrome; gene; microarray
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-012-0132-z

Down's syndrome (DS) is one of the most common numerical chromosomal aberrations in humans, usually caused by trisomy of chromosome 21, and is the most frequent genetic cause of mental retardation. This disorder affects around 1 in 800 live births in humans, and it is caused by a complete, or occasionally partial, triplication of chromosome 21 resulting in a complex and variable phenotype. In this study we used microarray methodology to investigate the effect of trisomy 21 on the whole gene expression set of leucocytes of peripheral blood and the results obtained in DS subjects compared with the normal population were validated through quantitative real-time PCR (qRT-PCR).