0

Dr. Nihad Elsadig Babiker Ismail

National Center of Neurological Sciences, Sudan

Title: Vitamin D receptor gene Polymorphisms (fok1 and taq1) among Sudanese women with recurrent miscarriages

Abstract

Vitamin D endocrine system was formally known as a key player in calcium and phosphate homeostasis, it influences maternal and fetal cell differentiation and cell growth immune regulation, insulin secretion, and anti-proliferative processes. A case-control study was conducted at the National Center of Neurological Sciences, Khartoum, Sudan from 2021 to 2022. All patients attending the obese and gain unit at Ibraheim Malike teaching hospital and diagnosed with unexplained recurrent spontaneous abortion were included as a case. Healthy women with no history of abortion at a reproductive age were selected as the control. Genomic DNA was extracted from blood, conventional PCR machine was used to amplify the VDR gene. PCR products were then sequenced. A219 bp of the VDR (FokI) allele was detected with gel electrophoresis after PCR, all of the cases were positive100%forVDR (FokI) allele and 34% of controls were positive. When the cases sequencing results were compared with the normal reference the following single Base Exchanges were found A>C, G>T, and G>A, no single base exchange was found among the control groups. The mutation taster revealed; A>C Base Exchange polymorphism was predicted, which confirms the presence of rs2228570polymorphism. Also, two other Base Exchange polymorphism was predicted G>A and G>T.   For the Taq1 alleles; 242 bp of the VDR (TaqI) allele was detected with gel electrophoresis, 97.7% of cases were positive for the VDR (TaqI) allele and 14% of the control group were positive. The sequencing analysis detected three single Base Exchange polymorphisms C>T, G>C, and C>A.  The mutation taster revealed; C>T Base Exchange polymorphism was predicted, which confirms the presence of rs731236 polymorphism. In addition to the prediction of G>C and C>A which changed the amino acid sequence and the spliced sit.  The study showed a significant association between fok1 rs2228570 and taq1 rs731236 variants of the VDR gene and recurrent miscarriage among Sudanese women. 

Biography

Dr. Nihad Elsadig Babiker received her Ph.D. in hematology and immune hematology from Khartoum University (Sudan). Before that, she was trained in stem cell technology - at Sughow University (china), and in Technical immunology- at Sughow University (china). Previously she got her master's degree from the Sudan university of science and technology. And it all started with the bachelor’s degree she received from the University of Gezira. Currently, She is a Researcher at The National Center for Neurological Sciences and director of the Stem Cells Research Laboratory at NCNS. She has a special interest in capacity building for Young Scientists. She published about 39 papers in pre-review journals and has many abstracts at international Conferences.