Genetic Analysis of Keloid Formation

瘢痕疙瘩形成的遗传学分析

基本信息

批准号：
8054986
负责人：
ERNST J REICHENBERGER
金额：
$ 57.14万
依托单位：
UNIVERSITY OF CONNECTICUT SCH OF MED/DNT
依托单位国家：
美国
项目类别：
财政年份：
1999
资助国家：
美国
起止时间：
1999-09-10 至 2015-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8054986
关键词：
Accounting Affect Biochemical Biological Candidate Disease Gene Cells Cicatrix Connecticut Controlled Study DNA Data Data Analyses Dermal Disease Extracellular Matrix Family Family Relationship Fibroblasts Future Gender Gene Mutation Genes Genome Scan Genomics Genotype Goals Growth Health Individual Inherited Keloid Lead Maps Microsatellite Repeats Minority Modeling Molecular Mutation Mutation Analysis Pain Patients Penetrance Phenocopy Population Population Study Process Processed Genes Psychological Impact Quality of life Recruitment Activity Sampling Severities Skin Somatic Mutation Susceptibility Gene Testing Trauma Universities Wound Healing age related autosomal dominant trait cell type data mining genetic analysis genetic linkage analysis genome wide association study improved quality assurance recessive genetic trait response segregation tool tumor wound

项目摘要

DESCRIPTION (provided by applicant): Keloid formation is a wound healing disorder which affects primarily darker-skinned minority populations in the US. Keloids occur sporadically or can be inherited as an autosomal dominant or recessive trait. Gene mutations and downstream cascades that are causative for keloid scarring have not been identified. Identifying such genes is fundamental to the understanding of keloid pathoetiology since biochemical and cell biological approaches have not lead to the identification of the cause for keloid formation. Keloids present an ideal model to study key mechanisms for scar formation in general. One objective of this application is to recruit families with inheritable keloid formation. We have established a unique network of collaborators for family recruitment. The second objective is to identify genes and gene mutations in patients with familial keloid formation. DNA samples will be collected and tested for cosegregation to several susceptibility gene loci that were already identified. Cosegregating families will be used for fine mapping of loci. Genomic DNA from families that do not map to these loci will be used for genome-wide screening and linkage analysis in order to identify additional keloid gene loci. We will carry out linkage analysis using parametric and non-parametric approaches.

描述（由申请人提供）：酮的形成是一种伤口愈合障碍，主要影响美国皮肤较暗的少数群体。脚轮偶尔出现，也可以作为常染色体显性或隐性性状遗传。尚未鉴定出对酮瘢痕形成的致病性基因突变和下游级联反应。鉴定这种基因是对乳突病毒学的理解至关重要的，因为生化和细胞生物学方法并未导致鉴定乳突形成的原因。 Keloids提出了一个理想的模型，用于研究一般形成疤痕的关键机制。该应用程序的一个目的是招募具有可遗传的乳突形成的家庭。我们已经建立了一个独特的家庭招聘合作者网络。第二个目标是鉴定家族性乳杆菌形成患者的基因和基因突变。将收集DNA样品并测试已鉴定出的几个易感基因座的Cosegregation。 Cosegregnated家族将用于精细地图。未映射到这些基因座的家族的基因组DNA将用于全基因组筛查和连锁分析，以鉴定其他乳子基因基因座。我们将使用参数和非参数方法进行链接分析。