KINDLER SYNDROME AND ACTINIC PRURIGO: MOLECULAR ANALYSIS

阳光是迄今为止对皮肤最严重的环境伤害。确定几种遗传性光敏综合征的分子基础，包括着色性干皮病和rothmond - thomson综合征，增强了我们对太阳损伤机制的理解。这项研究计划的目标是鉴定其突变导致两种尚未阐明的遗传性光敏性疾病——金德勒综合征和光化性痤疮的基因。DNA来自巴拿马博卡斯德尔托罗的一组独特的金德勒综合征患者，以及来自萨斯喀彻温省、西北地区基瓦廷和曼尼托巴省挪威之家的几组AP患者。自动全基因组扫描的可用性将加快基因分型，这将在汇集的DNA样本上完成。结果也将通过人工分析单个样本的基因型来确认。候选区域将通过多态位点的基因分型来缩小范围。在最初的研究中，来自受影响个体的DNA突变将与患有这些疾病的不同种类进行比较。

Sunlight is by far the most important environmental insult to the skin. Determination of the molecular basis of several inheritable photosensitivity syndromes, including Xeroderma pigmentosum and Rothmund-Thomson syndrome, has enhanced our understanding of the mechanisms of sun damage. The goal of this research proposal is the identification of genes whose mutations cause two of the remaining unelucidated heritable photosensitivity disorders-Kindler syndrome and actinic pruigo. DNA is available from a unique cohort of Kindler syndrome patients from Bocas del Toro, Panama and from several cohorts of AP patients from Saskatchewan, Keewatin in the Northwest territories and Norway House, Manitoba. Genotyping will be expedited by the availability of automated genome-wide scanning, which will be done on pooled DNA samples. Results will also be confirmed by manually analyzing the genotypes of individual samples. The candidate regions will be narrowed by genotyping at polymorphic sites. Mutations in DNA from affected individuals in the initial studies will be compared with different kindreds with these diseases.