| Autor: |
Hussain N; Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan., Malik S; Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan., Faiz T; Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan., Shafqat F; Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan., Khan AA; Department of Biotechnology University of Malakand 18800 Pakistan., Haq TU; Department of Biotechnology University of Malakand 18800 Pakistan., Ali W; Department of Biotechnology University of Malakand 18800 Pakistan., Aziz T; Department of Agriculture, University of Ioannina, 47100 Arta, Greece., Alharbi M; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia., Alshammari A; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia., Alasmari AF; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia. |
| Abstrakt: |
Myelomeningocele (MMC) is a congenital disease. For a long time, molecular mechanism of MMC, the role of folate receptor and transporter proteins remain unclear. Folate from maternal lumen to developing embryo is carried out with the help of folate transporters (SLC46A1, SLC19A1, FOLH1 and SLC25A32) and folate receptor (FOLR1, FOLR2 and FOLR3). Due to the loss of function of these important genes, complications can facilitate the risk of MMC. This study focused on the mutational analysis of FOLR1 and FOLR2 genes in children suffering from MMC. Myelomeningocele is a rare disorder so twenty blood samples from the children were collected. Primers of selected exons for FOLR1 and FOLR2 genes were designed with the help of PrimerFox software. Extracted DNA was amplified, and PCR based mutational analysis was done to check any type of mutation/SNPs in these genes. Sanger sequencing method was performed to confirm mutation in FOLR1 and FOLR2 genes. The results showed that certain environmental factors (smoking, low socio-economic status of mother bearing MMC fetus) were found to be significantly (P<0.05) associated with MMC but no mutation in the selected exons of FOLR1 and FOLR2 genes was detected. Thus, genetic variations in the folate transporter gene may have no role in the progression of MMC in the studied population. |
