Pezhman Fard-Esfahani; Shohreh Khatami
Volume 5, Issue 1 , January 2010, , Pages 22-26
Abstract
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. ...
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Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR and hence cholesterol metabolism disorder. The aim of this study was identifying genotype of possible mutation in an Iranian FH patient. Materials and Methods: Promoter and all 18 exons including exon-intron boundaries of LDLR gene were scanned. Polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) was used as mutation scanning method. DNA sequencing was used to identify any nucleotide change(s). Results: A new frameshift mutation (660-661InsCC) was found in proband. Conclusion: This mutation causes a truncated, non-functional protein, which results in hypercholesterolemia. The mutation can be screened in proband's relatives to find other FH patients.
Pezhman Fard-Esfahani; Peyman Mohammadi-Torbati
Volume 4, Issue 4 , September 2009, , Pages 177-181
Abstract
Background and Objectives: Making stacking gels for polyacrylamide gels in the laboratory by conventional methods is laborious and time consuming. Considering the role of temperature in polyacrylamide gels with respect to electrical resistance and viscosity, we assumed that decreasing the temperature ...
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Background and Objectives: Making stacking gels for polyacrylamide gels in the laboratory by conventional methods is laborious and time consuming. Considering the role of temperature in polyacrylamide gels with respect to electrical resistance and viscosity, we assumed that decreasing the temperature would cause an increase in electrical resistance and viscosity. Ultimately, a downward temperature gradient imposed in the first phase of polyacrylamide gel running time would supposedly improve the migration of macromolecules. This project analyzed the effect of temperature gradient on the migration of macromolecules in the continuous gels (without stacking) and compared it with results obtained using stacking gels. Material and Methods: Electrical resistance was calculated using Ohm's law. Subsequently, to examine the effect of temperature change on macromolecules separation, conformation sensitive gel electrophoresis (CSGE) was used as a model and specimens were run under three different conditions, one of which was prepared with a stacking gel. Results: The electrical resistance showed an inverse relationship with temperature in this study. Separation of the DNA molecules in the continuous gels (with no stacking) was comparable with the conventional method (with stacking). Conclusion: Using a temperature gradient against time may be an alternative method for stacking gels.
