HEREDITARY DEAFNESS WORKSHOP

长期以来，人们一直知道，遗传因素在遗传过程中起着重要作用。 耳聋的病因学以及耳聋的综合征和非综合征形式 耳聋表现出极端程度多区域遗传异质性。 直到最近，遗传学的特征似乎不可能 耳聋证候可以超越临床水平。 然而，在这方面， 在过去的一年里，现代分子生物学技术的应用 遗传学已经表明，如何定位特定的基因， 遗传性耳聋的遗传连锁研究及基因克隆 特别参与听觉器官的形成 通过特定耳蜗和前庭表达的发展 图书馆. 这些发展有望导致快速克隆 许多不同的基因会导致耳聋。 测定 这些基因的蛋白质产物通过“反向遗传学”方法 应该提供更多的信息，以充分了解 胚胎学和生理学的听力比已经获得的 在过去的世纪中，更传统的方法的应用。 的 产前诊断遗传性耳聋的能力将提高道德和 关于应用这些新知识的伦理问题， 这在人类遗传学领域是前所未有的，必须开始 立即考虑。 因此，现在是召开一次 第八届人类遗传学大会遗传性耳聋研讨会 会议将于1991年10月6日至11日在华盛顿，华盛顿特区举行。 专家 来自世界各地的专家将参加拟议的讲习班， 这笔赠款中要求提供资金，以支持 参与者

It has long been known that genetic factors play a major role in the etiology of deafness and that both syndromic and non-syndromic forms of deafness exhibit an extreme degree of multi-local genetic heterogeneity. Until recently, it seemed impossible that the characterization of genetic deafness syndromes could be carried beyond the clinical level. However, within the past year, the application of modern techniques of molecular genetics have shown how it is possible to localize specific genes for hereditary deafness by genetic linkage studies and how to clone genes that are specifically involved in the formation of the organ of hearing by the development of specific cochlear and vestibular expression libraries. These developments promise to lead to the rapid cloning of many of the different genes that can cause deafness. Determination of the protein products of these genes by the "reverse genetics" approach should yield more information relevant to a full understanding of the embryology and physiology of hearing than has been gained by the application of more conventional approaches during the past century. The ability to diagnose genetic deafness prenatally will raise moral and ethical questions about the application of this new knowledge that are unprecedented in the field of human genetics and must begin to be considered immediately. This is, thus, an opportune time to convene a workshop or, Hereditary Deafness at the 8th Congress of Human Genetics which will be held in Washington, D.C. from October 6-11, 1991. Experts from around the world will participate in the proposed workshop and funding is requested in this grant to support the travel and costs of the participants.