The Polymorphism Identification of Reduced Folate Carrier 1 (RFC1) in Patients of Non Syndromic Cleft Lip with or Without Cleft Palate in Sumatera Utara
Journal Title: International journal of Emerging Trends in Science and Technology - Year 2017, Vol 4, Issue 10
Abstract
Research Objective: Cleft lip is the second most frequent congenital anomalies in Indonesia after Down Syndrome with the prevalence among children aged 24-59 months (Agency of Health Research and Development, Indonesian Ministry of Health, 2013). The etiology of non syndromic cleft lip with or without cleft palate has not yet been defined. Some studies have investigated the involvement of genetic and environmental factors (Blanton et al., 2011; Wehby & Murray, 2011). Some genes involved in the folate metabolism have been recently examined in order to discover the genetic factors in the cleft lip etiology. Reduced Folate Carrier 1 (RFC1) protein is not directly involved in the folic acid metabolism but plays a significant role in the intracellular transport of metabolically active 5-methyltetrahydrofolate (MTHF) and maintains the intracellular concentrations of folate. This research intends to identify polymorphism in the Reduced Folate Carrier 1 (RFC1) in the patients of non syndromic cleft lip with or without cleft palate in Sumatera Utara. Methods: A number of 46 patients of cleft lip without cleft palate participated in this descriptive study. Subjects' DNAs were extracted from the patients' peripheral leukocytes followed by genotyping procedure on RFC1 A80G gene using Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCRRFLP). Results: Genotype distributions of the subject groups followed Hardy-Weinberg Equilibrium. The mutant genotype frequency (AG+GG) of the subject groups was 63% (29/46). Conclusion This research confirms the hypothesis that RFC1 A80G mutant variant holds a greater proportion in the patients of non syndromic cleft lip with or without cleft palate in Sumatera Utara
Authors and Affiliations
Budi Yulhasfi Febrianto
Keywords
Related Articles
- EP ID EP245607
- DOI -
- Views 105
- Downloads 0
Laboratory Base Pavement Surface Analysis Based on Materials Characterization
Skid resistance is a condition parameter that characterizes the contribution that a road surface makes to the level of friction available at the contact patch between a road surface and vehicle tire during acceleration,...
Study and Analysis of Knowledge Representation methods in Expert System
During the quarter century since the birth of the branch of computer science known as artificial intelligence (Al), much of the research has focused on developing symbolic models of human inference. In the last decade se...
Improvisation of Training Algorithm through Hybridization for Rule Extraction
The Artificial Neural Network is widely used for classification. In classification, training and learning of the network in which weights and biases of the network neuron are computed to give expected output, is a comple...
Risc Processor Using VHDL
Reduced Instruction Set Computer (RISC) is become a design theory that has accepted in engineering applications. Optimizing gate capacity and performance of FPGA kit. This devices provides complex logic systems to be per...
Review of Performance of Coal Gasification Using Measured Property
This paper addresses the question how coal gasification may be used more efficiently and economically than it is being used today. coal already plays a large role in the energy supply, especially in developing countries,...