title: A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.
abstract: OBJECTIVE
  A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations.
  
  
  METHODS
  Usage of a temperature gradient against running time was tested with 33 identified mutations in the LDL receptor gene. Most of the mutations were missense.
  
  
  RESULTS
  32 mutations were detected using this method (sensitivity: 97%). The duration required for running the test for each of the exons was reduced to 3-4 h.
  
  
  CONCLUSIONS
  This modified CSGE method may be used as a screening procedure in genetic diseases where a variety of mutations may cause illness.
authors.affiliation: Biochemistry Department, Pasteur Institute of Iran, No. 69 Pasteur Avenue, Tehran 13164, Iran. fard-esfahani@pasteur.ac.ir
authors.forename: Pejman
authors.initials: P
authors.lastname: Fard-Esfahani
authors.forename: Shohreh
authors.initials: S
authors.lastname: Khatami
authors.forename: Cyrus
authors.initials: C
authors.lastname: Zeinali
authors.forename: Mohammad
authors.initials: M
authors.lastname: Taghikhani
authors.forename: Mojgan
authors.initials: M
authors.lastname: Allahyari
mesh_terms: D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D012680:Sensitivity and Specificity; D017384:Sequence Deletion
chemical_list: D011973:Receptors, LDL