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165
Pili Annulati: Exclusion from candidate areas.
Jack Green1,3, David de Berker2, Elizabeth
Fitzpatrick3, Susan Forrest3, Rod Sinclair1. 1Department of
Dermatology, St.Vincent’s Hospital, Melbourne, Australia;
2Bristol Royal Infirmary, Bristol, England; 3Murdoch Childrens
Research Institute, Melbourne, Australia
The purpose of this study was to investigate
whether pili annulati is linked to keratin loci on chromosome
12 and 17 and the hairless / Marie Unna locus on chromosome
8p21. Twenty five individuals from two families after being
examined and having hair taken for microscopy to establish
phenotype had genomic DNA extracted. Microsatellite markers
in the above areas were examined using gammaP33 labelled forward
primers. Nine of eighteen individuals from one family and
three of seven individuals from a second family had pili annulati.
Linkage analysis of markers D17S855 and D17S1818 at č = 0.05
gave LOD scores of –0.43 and -3.86; markers D12S90 and D12S361gave
LOD scores of –1.20 and –2.57; and markers D8S560 and D8S298
gave LOD scores of –3.11 and –2.16. Assuming no locus heterogeneity
in these families these results suggest that a genetic susceptibility
locus is unlikely to be present in these candidate areas.
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