KELOID FORMATION

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 本研究的长期目标是了解纤维化疾病中真皮组织新生的分子机制。为了实现这一目标，我们研究遗传性瘢痕疙瘩的形成。瘢痕疙瘩是皮肤或角膜的良性肿瘤，由异常伤口修复期间成纤维细胞的过度活性引起。相对大量的瘢痕疙瘩形成的家族性病例使得有可能提出一种遗传方法来鉴定负责增加细胞增殖和细胞外基质表达的基因。我们对患有常染色体显性遗传性瘢痕疙瘩形成的大家族进行全基因组筛选和连锁分析。随后，我们确定和分析染色体位点。 我们已经确定了可能的疾病基因位点，现在正在建立瘢痕疙瘩基因位点的高分辨率地图。 需要鉴定和招募更多的家族以验证和进一步表征基因座。将对这些家庭进行共定位测试。不共定位于现有基因座的合适家族将用于全基因组筛选。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The long-term goal of this study is to understand the molecular mechanisms of neoformation of dermal tissue in fibrotic diseases. To achieve this goal we study hereditary keloid formation. Keloids are benign tumors of the skin or cornea caused by overactivity of fibroblasts during abnormal wound repair. The relatively large number of familial cases of keloid formation makes it possible to propose a genetic approach for the identification of a gene responsible for increased cell proliferation and extracellular matrix expression. We perform genome wide screening and linkage analysis of suitably large families afflicted with the autosomal dominant form of hereditary keloid formation. Subsequently we identify and analyze the chromosomal loci. We have identified possible disease gene loci and are now in the process of establishing high resolution maps of the keloid loci. Additional families need to be identified and recruited to verify and further characterize the loci. These families will be tested for co-localization. Suitable families that do not co-localize to an existing locus will be used for genome wide screening.