Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective.
View Article and Find Full Text PDFFirst stage revision of an infected hip can be a complex procedure. Effective infection control may dictate leaving a skeletalised hip with bony defects. Decisions must be made to adapt to the intra-operative findings.
View Article and Find Full Text PDFThe 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations.
View Article and Find Full Text PDFMutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with normal pigment variation. In Europeans, three haplotypes in the region have been shown to be associated with eye pigmentation and a missense SNP (rs1800407) has been associated with green/hazel eyes (Branicki et al. in Ann Hum Genet 73:160-170, 2009).
View Article and Find Full Text PDFThe polymorphic inversion on 17q21, sometimes called the microtubular associated protein tau (MAPT) inversion, is an approximately 900 kb inversion found primarily in Europeans and Southwest Asians. We have identified 21 SNPs that act as markers of the inverted, i.e.
View Article and Find Full Text PDFInhibition of return (IOR) refers to slowed reaction times when a target repeats in the same location as a preceding stimulus. In four experiments, the participants were presented with two successive stimuli, S1 and S2. In Experiments 1 and 2, the participants made a speeded discrimination of the identity or orientation of both S1 and S2 (Experiment 1) or of S2 only (Experiment 2).
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