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+44 28 3718 0055Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Reid N Author
Subjects of specialization
Affiliation
Hypercholesterolemia
Department of Pathology, University of Otago (Christchurch), Christchurch, New Zealand
Biography
Mr. Reid N, belongs to the department of Pathology, interest in the field of LDLR; Mutation; Hypercholesterolemia; Hyperlipidaemia; Identity-by-descent; Haplotype, from Canterbury Health Laboratories, Christchurch, New Zealand
Publications
Research Article Subscription
Investigation of the Origin of Common LDLR Mutation Alleles in New Zealand Familial Hypercholesterolemia Patients
Author(s): Laurie AD, Spain RJ, Reid N and George PM
Objective
Amongst New Zealand patients with familial hypercholesterolaemia (FH) some LDLR mutations have been identified in multiple unrelated individuals. This could be because these variants occur at sites prone to recurrent mutation, or because ancestral mutation alleles are present at an increased frequency in the population. The aim of this study was to investigate the contribution of these mechanisms to the aetiology of FH in New Zealand.
Methods
To assess which of these scenarios underlies the prevalence of these common LDLR mutations, haplotype analysis was performed using five short tandem repeat (STR) markers which flank LDLR. Haplotype data was used to identify wh... view more»
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