CLINICAL PHENOTYPE OF IMPRINTED GENES ON CHROMOSOME 14

14号染色体印记基因的临床表型

• 批准号: 7374930
• 负责人: VERNON R SUTTON
• 金额: $ 0.22万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-12-01 至 2006-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7374930
• 关键词: CLINICAL; PHENOTYPE; IMPRINTED; GENES; CHROMOSOME

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. Both maternal and paternal uniparental disomy (UPD) for chromosome 14 have specific phenotypes, indicating that there are imprinted genes on chromosome 14.Through careful and systematic characterization of the clinical features associated with both maternal and paternal UPD 14, we will prove that maternal and paternal UPD 14 are distinct entities and gain a better understanding of the actions of imprinted genes on chromosome 14. The study of human disorders, such as Angelman, Prader-Willi, Beckwith-Wiedemann and Russell-Silver syndromes, has led both to the identification of imprinted genes and to an understanding of the effects of those imprinted genes. To date, there has been no systematic characterization of the phenotypic features of maternal and paternal UPD 14, and as yet, only one imprinted gene has been identified on chromosome 14. We will test the hypothesis that careful and systematic characterization of the features of UPD 14 will demonstrate that maternal and paternal UPD 14 are distinct and different disorders. We will also gain a better understanding of the effects of the imprinted genes on chromosome 14.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中出现。列出的机构是中心的机构，不一定是研究者的机构。 14 号染色体的母本和父本单亲二体性（UPD）均具有特定的表型，表明 14 号染色体上存在印记基因。通过仔细、系统地表征与母本和父本 UPD 14 相关的临床特征，我们将证明母本和父本的 UPD 14父系 UPD 14 是不同的实体，可以更好地了解 14 号染色体上印记基因的作用。对人类疾病的研究，例如 Angelman、 Prader-Willi、Beckwith-Wiedemann 和 Russell-Silver 综合征导致了印记基因的鉴定以及对这些印记基因的影响的理解。迄今为止，还没有对母本 UPD 14 的表型特征进行系统表征，并且迄今为止，仅在 14 号染色体上鉴定出一个印记基因。我们将检验以下假设：对 UPD 特征进行仔细和系统的表征图 14 将证明母亲和父亲 UPD 14 是不同的疾病。我们还将更好地了解 14 号染色体上印记基因的影响。