8 Papers
273 Citations
S. I. Webb is an academic researcher from QIMR Berghofer Medical Research Institute. The author has contributed to research in topics: Haplotype & Locus (genetics). The author has an hindex of 7, co-authored 8 publications.
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Papers
Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis.
Christine E. McLaren,Geoffrey J. McLachlan,June W. Halliday,S. I. Webb,Barbara A. Leggett,E C Jazwinska,Darrell H. G. Crawford,Victor R. Gordeuk,Gordon D. McLaren,Lawrie W. Powell +9 more
TL;DR: The results confirm that hemochromatosis heterozygotes form a distinct transferrin saturation subpopulation and support the use ofTransferrin saturation as an inexpensive screening test for hemochROMatosis.
144
•Journal Article
Localization of the hemochromatosis gene close to D6S105.
TL;DR: P pedigree data indicate an association between HC and specific alleles at HLA-A and D6S105 allele 8, and a multipoint map indicates that the HC gene is located in a region less than 1 cM proximal to HLA -A and less than1 cM telomeric of HLA,A.
113
•Journal Article
Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene.
Darrell H. G. Crawford,L. W. Powell,Barbara A. Leggett,J. S. Francis,Linda M. Fletcher,S. I. Webb,June W. Halliday,E C Jazwinska +7 more
TL;DR: Clinical evidence that the predominant ancestral haplotype in Australian patients is associated with a common mutation in the gene for Hemochromatosis is looked for and the high population frequency of the HC gene may be the result of the selective advantage conferred by protecting heterozygotes against iron deficiency.
85
•Journal Article
Haplotype analysis in Australian hemochromatosis patients : evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
E C Jazwinska,W.R. Pyper,Michael J. Burt,J L Francis,S. Goldwurm,S. I. Webb,S C Lee,June W. Halliday,L. W. Powell +8 more
TL;DR: Haplotype analysis in Australian HC patients provides strong evidence for (a) the introduction of HC into this population on an ancestral haplotype, (b) a common mutation associated with HC in Australian patients, and (c) a candidate HC-gene region extending between and including D 6S248 and D6S105.
84
A region of primer binding variation at the D6S265 locus associated with HLA-A25 and HLA-A26 antigens.
W.R. Pyper,Michael J. Burt,Lawrie W. Powell,S. I. Webb,Lesley C. Adès,June W. Halliday,E C Jazwinska +6 more
TL;DR: Five base changes were identified in the reverse primer binding region of the variant individual, effectively preventing annealing of the 3′ primer to the template.
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