Mutation scanning of LDLR in the whole population

KK Alharbi, L Haddad, S Ye, DA Lawlor, RA Whittall, E Spanakis, X Chen, H Rassoulian, I Simpson, DIW Phillips, C Cooper, G Davey Smith, SE Humphries, S Ebrahim, INM Day

Research output: Contribution to journalArticle (Academic Journal)peer-review


We have developed and applied to LDLR, a mutation scanning approach suitable for whole population screening for unknown mutations. Applications include definition of population-based 'lefelence ranges' for rat'er sequence vat'iation; characterisation of 'paucimorphisms' (arbitrarily defined here as variants of rater allele fi'equency, 0.05%A (n=2). Around exon 8 we identified a paucimorphism (n=35) at splice site 1061-8 T>C (known to be in complete linkage disequilibrium with T705I); and unknown splice 1186+11 G>A (n=l) and D335N G>A (n=l). D335N and a significant fi'action of T705I subjects displayed cholesterol values above the 95th centile. Thus both severe, moderate and silent vat'iants were identified, at the population level.
Translated title of the contributionMutation scanning of LDLR in the whole population
Original languageEnglish
Article numberSupplement
Pages (from-to)80
Number of pages1
Publication statusPublished - Apr 2004


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