Abstract

A MOLECULAR PANORAMA OF DOWN SYNDROME- À LA MODE EVIDENCE AND FUTURE IMPLICATION

*Pramod Singh Khatri and Dr. Sumit Kumar

ABSTRACT

Down syndrome brought on by chromosome 21 (trisomy) is the most well-known genetic reason of mental hindrance in human population. Interruption of the phenotype is assumed to be the aftereffect of gene dose unevenness. Therefore, the majority of the chromosome 21 transcripts are attuned for the gene dose impact. Overexpressed gene are most likely to be responsible for the Down syndrome phenotype. Profoundly variable genes could represent phenotypic varieties found in such patients. Down syndrome influences many infants worldwide independent of race, ethnicity, and maternal age at gestation. Much investigation has been done to focus precisely how the additional chromosome 21 leads severe fatal symptoms.

Keywords: Down Syndrome, HSA21, MTHFR, DYRK1A, Folate Metabolism.