McKenna M J, Kristiansen A G, Bartley M L, Rogus J J, Haines J L
Department of Otology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114-3096, USA.
Am J Otol. 1998 Sep;19(5):604-10.
Otosclerosis is related to mild osteogenesis imperfecta with genetic defects in type I collagen.
Otosclerosis is a common bone disease of the human otic capsule that has an underlying hereditary predisposition. The histopathology and clinical manifestations are strikingly similar to the milder forms of osteogenesis imperfecta in which mutations of type I collagen genes have been established as the underlying cause.
The authors investigated the genetic basis of otosclerosis by conducting an association study using polymorphic DNA markers from patients with clinical otosclerosis and random control subjects.
This study showed a significant association between clinical otosclerosis and the type I collagen COL1A1 gene using three different polymorphic markers within the gene.
Some cases of clinical otosclerosis may be related to mutations within the COL1A1 gene that are similar to those found in mild forms of osteogenesis imperfecta and result in null expression of the mutant allele.
耳硬化症与I型胶原存在基因缺陷的轻度成骨不全相关。
耳硬化症是人类听囊常见的骨疾病，具有潜在的遗传易感性。其组织病理学和临床表现与轻度成骨不全极为相似，而后者已证实是由I型胶原基因突变所致。
作者通过对临床耳硬化症患者和随机对照受试者使用多态性DNA标记进行关联研究，来探究耳硬化症的遗传基础。
本研究使用该基因内三种不同的多态性标记，显示临床耳硬化症与I型胶原COL1A1基因之间存在显著关联。
部分临床耳硬化症病例可能与COL1A1基因内的突变有关，这些突变与轻度成骨不全中发现的突变相似，导致突变等位基因无表达。
