PHENOTYPING KINDREDS OF FAMILIAL PCOS

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， 因此可以在其他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。 该建议的总体假设是，家族性多囊卵巢综合征（PCOS）是一种遗传性疾病。 多囊卵巢综合征（PCOS）是育龄妇女最常见的内分泌疾病之一，以高雄激素性无排卵为主要特征。 尽管经过50多年的研究，其病因仍然不确定。 遗传学的方法来研究综合征可能会分离出一个或多个候选基因。 然而，遗传学研究受到与临床研究相同的因素的限制。 没有临床或生化标志物是该综合征独有的，必须首先排除高雄激素血症的其他病因。 此外，非育龄妇女和男性的表型尚不清楚。 澄清表型将允许受影响状态的分配。 这对于进行疑似遗传模式的分离分析和最终进行连锁分析以鉴定可能涉及的特定基因都是必要的。 我们的目的是充分表型激酶与多囊卵巢综合征的目的分配受影响的地位作为一个前奏连锁分析。 我们建议充分表型以前确定的家族性PCOS的临床，生物统计学和生化异常的激酶。

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 overall hypothesis of this proposal is that familial polycystic ovary syndrome (PCOS) is a genetic disorder. PCOS is one of the most common endocrine disorders in women of reproductive age, and is characterized by hyperandrogenic anovulation. Despite over fifty years of research, the etiology is still uncertain. Genetic approaches to the study of the syndrome may isolate one or more candidate genes. However, genetic studies have been limited by the same factors as their clinical counterparts. There is no clinical or biochemical marker that is exclusive to the syndrome and other etiologies of hyperandrogenism must first be excluded. Additionally, the phenotype of women of non-reproductive age and among men is unclear. Clarifying phenotypes will allow assignment of affected status. This is necessary both to perform segregation analysis for suspected mode of inheritance and eventually for linkage analysis to identify specific genes that may be involved. Our intention is to fully phenotype kindreds with PCOS for the purpose of assigning affected status as a prelude to linkage analysis. We propose to fully phenotype previously identified kindreds of familial PCOS for clinical, biometric and biochemical abnormalities.