Genetic Analysis of Keloid Formation

描述（由申请人提供）：瘢痕疙瘩形成是一种伤口愈合障碍，主要影响美国肤色较深的少数人群。瘢痕疙瘩偶尔发生或可以遗传为常染色体显性或隐性性状。导致瘢痕形成的基因突变和下游级联反应尚未确定。识别这些基因是了解瘢痕疙瘩病理的基础，因为生化和细胞生物学方法还不能确定瘢痕疙瘩形成的原因。瘢痕疙瘩是研究瘢痕形成关键机制的理想模型。该应用程序的目的之一是招募具有遗传性瘢痕疙瘩形成的家庭。我们建立了一个独特的家庭招聘合作伙伴网络。第二个目的是鉴定家族性瘢痕疙瘩形成患者的基因和基因突变。将收集DNA样本并对已确定的几个易感基因位点进行共分离测试。将使用共聚家族来精确定位位点。来自家族的基因组DNA不映射到这些位点将用于全基因组筛选和连锁分析，以确定额外的瘢痕疙瘩基因位点。我们将使用参数和非参数方法进行联动分析。

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.