MAINTENANCE OF THE BLOOM'S SYNDROME REGISTRY

布鲁姆综合征登记处包括了大多数真正的病例 布卢姆综合征（BS）自1954年以来一直被承认，当时 首先描述了条件。 该登记册已经建立， 在未来几年的维修建议，主要是因为一个 该综合征的特定临床特征，即癌症倾向。 的 注册表已成为一个车辆的监视世界的BS 发病率、发病年龄和分布 瘤形成类型，在受影响的纯合子和杂合子中 （BS基因携带者，表现正常）。 已 数据表明，在已知的隐性遗传疾病中， 最容易患上癌症的人 而且 癌症类型的分布可能与一般情况相似， 人口 同时，关于BS的自然过程的信息 （在许多方面都很有趣）正在积累。 另外， 接触提供了样本的来源，如血细胞，组织培养 细胞系和肿瘤DNA用于其他研究。 因此，在一个方面，书记官处作为一个中央存放处， 关于世界各地受影响家庭的信息，可被视为 研究资源。 请求支助的不是一个研究项目， 通常意义上，但为了维护布卢姆综合征登记处本身， 也就是说，来监测一个癌症易感人群，这个人群很小， 对于几个学科是有趣的（例如，肿瘤学，免疫学， 细胞遗传学和DNA代谢）。

The Bloom's Syndrome Registry is comprised of most of the bona fide cases of Bloom's syndrome (BS) that have been recognized since 1954, when the condition first was described. The Registry was developed, and its maintenance in the coming years is proposed, primarily because of one particular clinical feature of the syndrome, to wit, cancer proneness. The Registry has become a vehicle for the surveillance of the world's BS population with respect to the incidence, age of onset, and distribution of types of neoplasia, in both affected homozygotes and in heterozygotes (carriers of the BS gene, who appear phenotypically normal). Already the data suggest that of the known recessively-transmitted genetic disorders that predispose to cancer BS does so most strongly. Furthermore, the distribution of types of cancers may be similar to that in the general population. Simultaneously, information on the natural course of BS (interesting in several ways) is being accumulated. Also, the family contacts provide a source of specimens, such as blood cells, tissue culture cell lines, and tumor DNA for use in other studies. In one respect, then, the Registry, in being a central repository for information on a affected families throughout the world, may be viewed as a research resource. Support is requested not for a research project in the usual sense but for maintenance of the Bloom's Syndrome Registry itself, i.e., to monitor a cancer-prone population, one that is small but unusually interesting for several disciplines (e.g., oncology, immunology, cytogenetics, and DNA metabolism).