Mulley J C, Turner T, Nicholls C, Propert D, Sutherland G R
Clin Genet. 1985 Jul;28(1):31-5. doi: 10.1111/j.1399-0004.1985.tb01214.x.
Genetic linkage relationships between 27 informative marker loci and the locus for epidermolysis bullosa dystrophica, Cockayne-Touraine type (EBD-CT), were examined in a single large kindred. Linkage could not be demonstrated to any of the marker loci, further adding to the exclusion map for EBD-CT. The dominant forms of EBD so far delineated by clinical criteria and electron microscopy remain genetically undefined in terms of loci and allelism. Further investigation will be undertaken using restriction fragment length polymorphisms mapped to regions outside the existing exclusion map.
在一个大型家系中研究了27个信息性标记位点与营养不良型大疱性表皮松解症（科凯恩 - 图赖讷型，EBD - CT）位点之间的遗传连锁关系。未发现与任何标记位点存在连锁关系，这进一步扩充了EBD - CT的排除图谱。到目前为止，根据临床标准和电子显微镜所界定的EBD显性形式，在基因座和等位基因方面仍未明确其遗传特征。将利用定位到现有排除图谱之外区域的限制性片段长度多态性进行进一步研究。
