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:

OBJECTIVES:A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations. DESIGN AND 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.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Fard-Esfahani P,Khatami S,Zeinali C,Taghikhani M,Allahyari M

doi

10.1016/j.clinbiochem.2005.02.002

subject

Has Abstract

pub_date

2005-06-01 00:00:00

pages

579-83

issue

6

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(05)00044-5

journal_volume

38

pub_type

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