Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
Using denaturing high performance liquid chromatography (DHPLC) to screen the LDL receptor gene of people with familial hypercholesterolaemia (FH) in Christchurch, New Zealand, we have identified mutations in 65 patients (44 different mutations, of which 15 are novel). We also test family members of probands for the mutation identified in their relative, allowing diagnosis of affected children and those without classical FH symptoms. This screening programme is helpful to clinicians and benefits FH patients and their families, and has provided us with a pool of LDL receptor variants on which to base research into this disease.
Laurie
A D
AD
Scott
R S
RS
George
P M
PM
D002851:Chromatography, High Pressure Liquid; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009520:New Zealand; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL