Both sides of the fence.
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Biomedical subjects
Publications and source records attributed to E M White.
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We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an IQ between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abilities and visual-psychomotor difficulties similar to those seen in affected males. Results of chromosome studies, including fragile X, were normal in males and females. Linkage analysis was undertaken, with 19 X-specific chromosomal restriction fragment length polymorphisms (RFLPs), giving a maximal LOD score of 1.60 at a 0.10 recombination fraction for F9, suggesting a localization to distal Xq for the mutant gene in this family.
Linkage data using the polymorphic loci F9, DXS105, DXS98, DXS52, DXS15, and F8 and the DNA probe 1A1 are presented from 14 families segregating for fragile X [fra(X)] syndrome. Recombination fractions corresponding to the maximum LOD scores obtained by two-point linkage analysis suggest that DXS98 (Zmax = 3.23, theta = 0.0) and DXS105 (Zmax = 2.09, theta = 0.0) are the closest markers proximal to FRAXA and that DXS52 is the closest distal marker (Zmax = 3.55, theta = 0.16). FRAXA is located within a 25 cM interval between F9 and DXS52, coincident with DXS98, on multipoint linkage analysis. Phase-known three way crossover information places F8 outside the cluster (DXS52, DXS15, 1A1). Confidence limits for the markers DXS98 and DXS52 are relatively wide (0.0-0.15 and 0.06-0.31, respectively), but when used in combination with cytogenetic examination offer improved carrier detection in comparison with cytogenetic analysis alone.
Three extraction methods were compared for their effectiveness in the quantitative removal of endotoxin from unused and used bulk water-soluble metalworking fluid (MWF) samples. Soluble, synthetic, and semisynthetic fluids were studied. The three modes of extraction consisted of (1) pyrogen-free water (PFW); (2) PFW and Tween 20 (polyoxyethylene sorbitan monolaurate); and (3) PFW, Tween 20, and sonication. Results suggest that vigorous recovery methods yield higher amounts of endotoxin from MWF samples than mild recovery methods in PFW alone. Additional studies are required to aid in the understanding of the factors that significantly affect endotoxin extraction yields from these fluids.