KINDLER SYNDROME AND ACTINIC PRURIGO: MOLECULAR ANALYSIS

金德勒综合征和光化性痒疹：分子分析

• 批准号: 6294458
• 负责人: Dawn H. Siegel
• 金额: $ 4.2万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-05-01 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6294458
• 关键词: clinical research; congenital skin disorder; family genetics; gene mutation; genetic mapping; genetic polymorphism; genetic screening; genotype; human genetic material tag; human subject; light adverse effect; molecular pathology; nonvisual photosensitivity; postdoctoral investigator

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.

阳光是迄今为止对皮肤最重要的环境伤害。确定几种遗传性光敏综合征（包括着色性干皮病和罗斯蒙德-汤姆森综合征）的分子基础，增强了我们对阳光损伤机制的理解。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痒疹的基因。 DNA 可从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、西北地区的基瓦廷和马尼托巴省的挪威之家的几组 AP 患者中获得。自动化全基因组扫描的可用性将加速基因分型，这将在汇集的 DNA 样本上完成。结果还将通过手动分析单个样本的基因型来确认。候选区域将通过多态性位点的基因分型来缩小。初步研究中受影响个体的 DNA 突变将与患有这些疾病的不同亲属进行比较。