Abstract
Preliminary work has suggested linkage of the Nettleship-Falls type of X-linked ocular albinism (XLOA) with three anonymous loci DXS85, DXS16, and DXS9; respectively defined by probes p782/EcoRI pXUT23/BglII, and RC8/TaqI (Amer. J. Hu. Genet. 37:A161, 1985). In this study, linkage of XLOA with DXS85 (p782) was demonstrated in 1 family (lod=3.4, conf. inter. 0-0.12), and localization of the XLOA locus to the region Xp22 to Xpter was suggested. Prior studies suggested loose linkage of XLOA to the dominantly-inherited Xg allele near Xpter. We studied 2 large families with XLOA via opthalmological exams, skin biopsies for macromelanosomes, & pedigree analysis. We analyzed segregation at 3 anonymous loci in addition to the Xg locus: DXS85 (p782), DXS9 (RC8), and DXS164 (pERT87-8/TaqI and pERT87-15/TaqI). Family 1 consisted of 108 members, including 12 involved in this study (2 affected males, 3 carrier females, 7 unaffected). Family 2 consisted of 122 members, including 45 involved in this study (8 affected males, 11 carrier females, 26 unaffected). Linkage of XLOA with DXS85 was confirmed for both families, while DXS9 was uninformative, Further studies with flanking markers (the Xg blood group and the pERT probes) are in progress. Since both families are informative at the pERT locus, it should be possible to define the relative distances between the XLOA locus and flanking loci.
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Volpe, M., Graham, J., Miller, F. et al. LINKAGE ANALYSIS IN X-LINKED OCULAR ALBINISM. Pediatr Res 21 (Suppl 4), 295 (1987). https://doi.org/10.1203/00006450-198704010-00765
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DOI: https://doi.org/10.1203/00006450-198704010-00765