Please use this identifier to cite or link to this item: http://hdl.handle.net/11434/616
Title: A gene for pili annulati maps to the telomeric region of chromosome 12q.
Epworth Authors: Sinclair, Rodney
Other Authors: Green, Jack
Fitzpatrick, E.
de Berker, D.
Forrest, S. M.
Keywords: Head and Neck Institute, Epworth HealthCare, Richmond, Victoria, Australia.
Department of Dermatology, Epworth HealthCare, Richmond, Victoria, Australia.
Chromosome Mapping
Chromosomes, Human, Pair 12
Hair
Hair Colour
Genetics
Hair Diseases
Haplotypes
Pedigree
Telomere
Autosomal Dominance
Logarithm of Odds
LOD
Issue Date: Dec-2004
Publisher: Elsevier
Citation: Journal of Investigative Dermatology. 2004 Dec;123 (6):1070-2.
Abstract: Pili annulati (PA) is a rare hair shaft disorder characterized by discrete banding of hairs. We studied two families with PA in which the disorder segregated in an autosomal dominant fashion. All family members were clinically examined and hair samples were examined under the light microscope. In family G, of 19 individuals examined, ten were affected, over three generations. In family B, there were three affected individuals of seven examined over three generations. A genome-wide scan of family G revealed a maximum logarithm of odds (LOD) of linkage score of 3.89 at marker D12S1723 at the telomeric region of chromosome 12q. From one critical recombinant in family G, the locus was narrowed down to a 9.2 cM region between D12S367 and the end of chromosome 12q. In family B linkage at the telomeric region of chromosome 12q also revealed a maximum LOD score of 0.89 at marker D12S1723. A combined LOD score, assuming no locus heterogeneity between the families was 4.78. Frizzled 10, which is located within the region, was sequenced but we were unable to detect a mutation causing PA. This study, for the first time, identifies a genetic locus for PA.
URI: http://hdl.handle.net/11434/616
URL: http://www.sciencedirect.com/science/article/pii/S0022202X15320947/pdfft?md5=e7d75628f41e51a734e48250f2428c5a&pid=1-s2.0-S0022202X15320947-main.pdf
PubMed URL: http://www.ncbi.nlm.nih.gov/pubmed/15610516
ISSN: ‎0022-202X
1523-1747
Journal Title: Journal of Investigative Dermatology
Type: Journal Article
Affiliated Organisations: Department of Dermatology, St Vincent's Hospital, Melbourne, Victoria, Australia.
Type of Clinical Study or Trial: Comparative Study
Appears in Collections:Head & Neck
Dermatology

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