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

doi:10.1016/S1567-5688(04)90344-9

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 journal › Article (Academic Journal) › peer-review

Abstract

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 contribution	Mutation scanning of LDLR in the whole population
Original language	English
Article number	Supplement
Pages (from-to)	80
Number of pages	1
Journal	Atherosclerosis
Volume	5(1)
DOIs	https://doi.org/10.1016/S1567-5688(04)90344-9
Publication status	Published - Apr 2004

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@article{d82fc62166b547be9439a1abbc7c29cc,

title = "Mutation scanning of LDLR in the whole population",

abstract = "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.",

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

year = "2004",

month = apr,

doi = "10.1016/S1567-5688(04)90344-9",

language = "English",

volume = "5(1)",

pages = "80",

journal = "Atherosclerosis",

issn = "1879-1484",

publisher = "Elsevier",

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TY - JOUR

T1 - Mutation scanning of LDLR in the whole population

AU - Alharbi, KK

AU - Haddad, L

AU - Ye, S

AU - Lawlor, DA

AU - Whittall, RA

AU - Spanakis, E

AU - Chen, X

AU - Rassoulian, H

AU - Simpson, I

AU - Phillips, DIW

AU - Cooper, C

AU - Davey Smith, G

AU - Humphries, SE

AU - Ebrahim, S

AU - Day, INM

PY - 2004/4

Y1 - 2004/4

N2 - 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.

AB - 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.

U2 - 10.1016/S1567-5688(04)90344-9

DO - 10.1016/S1567-5688(04)90344-9

M3 - Article (Academic Journal)

SN - 1879-1484

VL - 5(1)

SP - 80

JO - Atherosclerosis

JF - Atherosclerosis

M1 - Supplement

ER -

Mutation scanning of LDLR in the whole population

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