CLINICAL PHENOTYPE OF IMPRINTED GENES ON CHROMOSOME 14

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。14号染色体的母本和父本单亲二体(UPD)都有特定的表型，表明14号染色体上有印记基因。通过仔细和系统地分析母系和父系UPD 14的临床特征，我们将证明母系和父系UPD 14是不同的实体，并更好地了解14号染色体上印记基因的作用。对人类疾病的研究，如Angelman、Prader-Willi、Beckwith-Wiedemann和Russell-Silver综合征，导致了印记基因的鉴定和对这些印记基因的影响的了解。到目前为止，还没有对母系和父系UPD 14的表型特征进行系统的描述，而且到目前为止，在14号染色体上只发现了一个印记基因。我们将检验这样一种假设，即仔细和系统地描述UPD 14的特征将证明母系和父系UPD 14是不同的和不同的疾病。我们还将更好地了解14号染色体上印记基因的影响。

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.