ஜர்னல் ஆஃப் புரோட்டியோமிக்ஸ் & பயோ இன்ஃபர்மேடிக்ஸ்
திறந்த அணுகல்

சுருக்கம்

Computational Analysis of Mutations in Neonatal Diabetes (KCNJ11) Gene Reveals no Relation with Microsatellites

Allam Appa Rao, Gunna Kishore, Ravikanth Satapati, Susmitha Gogula

Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (K (ATP)) channel subunit Kir6.2 (KCNJ11) is a common cause of neonatal diabetes mellitus.(de Wet H 2007 et al). Neonatal diabetes was defined as hyperglycemia that requires insulin treatment and occurs during the first month of life ,it is also known as monogenic diabetes of infancy, which includes both the permanent and the transient types (Barbetti F. Endocr Dev. 2007) and the mutations in KCNJ11 gene causes Neonatal diabetes(Mlynarski W 2007 et al). We tried to find out whether the presence of micro satellite or simple sequence repeats in the KCNJ11 gene has any significance in the generation of these mutations and checked whether these mutations are fallen in the regions of those microsatillites and if so is there any significance of these microsatillites in the functional domains of the each gene. Our analysis reveled that all the microsatellites (National diabetes information clearinghouse) of the KCNJ11 does not contain any mutations and these mutations also does not fall in the functional domains of the KCNJ11 thus indicating that here there is no role of microsatellites in the mutations of KCNJ11 gene.