Zhang Yu

PURPOSE:To report the localization of a gene causing drusen and macular degeneration in a previously undescribed North American family. METHODS:Genetic mapping studies were performed using linkage analysis in a single family with drusen and atrophic macular degeneration. RESULTS:The clinical manifestations in this family ranged from fine macular drusen in asymptomatic middle-aged individuals to atrophic macular lesions in two children and two elderly patients. We mapped the gene to chromosome 6q14 between markers D6S2258 and D6S1644. CONCLUSIONS:In a family with autosomal dominant drusen and atrophic macular degeneration, the gene maps to a 3.2-cM region on chromosome 6q14. This locus appears to be distinct from, but adjacent to, the loci for cone-rod dystrophy 7 (CORD7) and North Carolina macular dystrophy (MCDR1). Future identification of the gene responsible for the disease in this family will provide a better understanding of macular degeneration.

While online medical consultations have become increasingly popular, not least in times when epidemics make access to medical facilities difficult, research exploring the interactive value of OMC is still in its infancy. This study examines patients’ disalignment with speculative diagnosis and its management by doctors in OMC interactions, which to my best knowledge are not examined. From a discourse analytic perspective, this study adopts Du Bois’s notion of stance-taking to approach text-based interactions collected from a widely used OMC website in China. This study finds that patients’ disalignment is often based on hard evidence, which is different from the major findings of previous studies. When addressing such disalignment, doctors adopt varied discursive strategies, which are hardly mentioned in prior studies, in particular, strategies that address the affective aspect of patients’ disalignment. This study thus provides a different perspective on disalignment and its management in the clinical context.