MOLECULAR BASIS OF INHERITANCE IN OTOSCLEROSIS

耳硬化症有明确的遗传倾向，尽管 基因传播的确切性质还没有被描述出来。在……里面 有些病例的耳硬化性病变在组织学上与耳硬化性病变相同。 成骨不全时可见包膜病变。某些形式的 成骨不全与遗传缺陷有因果关系 在I型胶原蛋白中。轻度遗传性遗传性疾病的遗传缺陷 软骨发育不良被认为与II型基因有关 胶原蛋白。在这项研究中，我们建议评估两者之间的联系 耳硬化症与I型和II型胶原基因限制性片段 家族性发育良好的家系成员长度多态性研究 耳硬化症。如果发现这些候选基因与 临床耳硬化症，将尝试确定耳硬化症 通过与其他基因片段标记的连锁分析获得基因座或基因座。 此外，还将进行实验，以继续调查 耳硬化症中可能存在缺陷麻疹病毒。这些 研究将集中在使用聚合酶链式反应技术来 确定受影响的病毒中是否存在麻疹病毒核酸 颞骨切片。

Otosclerosis has an unequivocal hereditary predisposition although the exact nature of the genetic transmission has not been delineated. In some cases otosclerotic lesions are histologically identical to the otic capsule lesions observed in osteogenesis imperfecta. Some forms of osteogenesis imperfecta have been causatively linked to genetic defects in type I collagen. Genetic defects in milder forms of hereditary chondrodysplasias have been causatively linked to the gene for type II collagen. In this study we propose to evaluate the linkage between otosclerosis and type I and type II collagen gene restriction fragment length polymorphisms in affected family members with well-established otosclerosis. If these candidate genes are found not to be linked to clinical otosclerosis, attempts will be made to identify the otosclerotic gene locus or loci by linkage analysis to other gene segment markers. In addition experiments will be conducted to continue investigation of a possible defective measles virus presence in otosclerosis. These studies will focus on the use of polymerase chain reaction techniques to establish the presence of measles virus nucleic acids within affected temporal bone sections.