A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia

A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations. 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. 32 mutations were detected...

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Veröffentlicht in:Clinical biochemistry 2005-06, Vol.38 (6), p.579-583
Hauptverfasser: Fard-Esfahani, Pejman, Khatami, Shohreh, Zeinali, Cyrus, Taghikhani, Mohammad, Allahyari, Mojgan
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Sprache:eng
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Zusammenfassung:A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations. 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. 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. This modified CSGE method may be used as a screening procedure in genetic diseases where a variety of mutations may cause illness.
ISSN:0009-9120
1873-2933
DOI:10.1016/j.clinbiochem.2005.02.002