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Title of Journal: J Endocrinol Invest

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Abbravation: Journal of Endocrinological Investigation

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Springer International Publishing

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DOI

10.1016/0960-1481(96)00050-x

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1720-8386

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Analysis of the vitamin D receptor FokI polymorphi

Authors: E Vigo A Salas R PérezFernández C Segura
Publish Date: 2014/03/27
Volume: 27, Issue: 2, Pages: 158-162
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Abstract

In the present study we analysed the vitamin D receptor VDR FokI polymorphism distribution in a Caucasian population from the NorthWest of Spain This polymorphism has been associated with variation in bone mineral density levels and has been proposed as a factor for the genetic predisposition to osteoporosis This study was performed in 60 healthy individuals by restriction fragment length polymorphism RFLP analysis using the endonuclease FokI and alternatively using single strand conformation polymorphism SSCP The genotype distribution was 467 FF homozygotes 433 Ff heterozygotes and 10 ff homozygotes These values do not reveal significant differences in comparison with other available Caucasoid populations but show clear differences with respect to AfricanAmerican populations The analysis of this polymorphism by SSCP reveals the existence of a novel single nucleotide polymorphism AAT/AAC located within the DNA binding domain of the VDR gene at position19 codon Thus using a novel 109 bp hVDR gene fragment which excludes the AAT/AAC variant in the vitamin D receptor FokI allows an easier determination by SSCP analysis of the FokI polymorphism

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