The Intellectual Disability (ID) is characterized by below average intelligence and lack of skills in day to day activities due to alteration of nervous system function. The ID is further divided into syndromic and non-syndromic types. The genetic background of intellectual disability is heterogenous and may include chromosomal aberrations, specific gene mutations and epigenetic defects. Present study is focused on epigenetic defects, where the authors examined promoter CpG island methylation of a selected panel of genes, identified in a genome-wide methylation screen, in Cornelia de Lange syndrome and generalized ID. Methylation Specific PCR was carried out on bisulfite converted DNA to screen promoter regions of FMR1, MeCP2, NIPBL and SMC1A genes. There is high frequency of methylation of MeCP2 and NIPBL promoter than any other studied gene. These two genes may have major contribution in causing ID.
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences – Springer Journals
Published: Apr 15, 2016
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.
All for just $49/month
It’s easy to organize your research with our built-in tools.
All the latest content is available, no embargo periods.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud