MOLECULAR GENETIC STUDIES OF EARLY ONSET PERIODONTITIS

一段时间以来，人们已经认识到早发性牙周 疾病(EOP)聚集在家庭中。最新遗传流行病学 研究表明，这种聚集可能至少部分归因于 一个或多个基因的作用对个体的行为有重大影响 对发展中的EOP易感性。几年来，我们集团一直在 进行EOP的家庭研究。我们的研究和我们的研究 合作者已经确定了大量受 我们招募了许多这样的人，而且 受EOP影响和未受影响的大家庭成员进入 参与我们的研究。这些调查导致了我们的 建立一大批永生化细胞系和DNA 来自EOP的样本影响个人及其家庭。 这项提议旨在通过以下方式利用这一宝贵资源 进行分子遗传学研究，目的是识别一些 特定的基因以及生化和生理过程 这是EOP风险的基础。我们的具体目标是：i.)应用链接的步骤 利用高信息量对EOP影响家庭的分析技术 微卫星重复序列多态，以便定位 主效易感基因和II.)进行联动和 应用RFLP和聚合酶链式反应检测DNA多态的相关性研究 选择的候选基因附近的基因座检测方法 免疫系统，例如，人类白细胞抗原、TCR、免疫球蛋白、细胞因子等)和趋化性 感受器。

It has been recognized for some time that early onset periodontal diseases (EOP) aggregate in families. Recent genetic epidemiological studies indicate that this aggregation may be due to at least in part to the action of a gene or genes that have a major influence on individuals' susceptibility to developing EOP. For several years our group has been conducting family studies of EOP. Our studies and those of our collaborators have identified a large number of individuals affected by this disorder and we have recruited many of these individuals and both EOP affected and unaffected members of their extended families into participation in our study. These investigations have led to our establishment of a large collection of immortalized cell lines and DNA samples from EOP affected individuals and their families. This proposal is designed to capitalize on this valuable resource by conducting molecular genetic studies with the goal of identifying some of the specific genes and the biochemical and physiological processes that underlie risk of EOP. Our specific aims are: i.) to apply linkage analysis techniques to EOP affected families using highly informative microsatellite repeat polymorphisms, in order to map the location of susceptibility genes of major effect, and ii.) to conduct linkage and association studies using DNA polymorphisms genotyped by RFLP and PCR methods for loci in the vicinity of selected candidate genes of the immune system e.g., HLA, TCR, IG, cytokines, etc.) and chemotactic receptors.