A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.
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.
Fard-Esfahani
Pejman
P
Biochemistry Department, Pasteur Institute of Iran, No. 69 Pasteur Avenue, Tehran 13164, Iran. fard-esfahani@pasteur.ac.ir
Khatami
Shohreh
S
Zeinali
Cyrus
C
Taghikhani
Mohammad
M
Allahyari
Mojgan
M
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
D011973:Receptors, LDL