Mendlowitz J C, Hirschhorn K
Ann Otol Rhinol Laryngol. 1976 Mar-Apr;85(2 pt.1):281-5. doi: 10.1177/000348947608500214.
A large family has been studied and its pedigree traced for six generations. Fifteen relatives are known to have had otosclerosis. Of these, the only six individuals who developed this disease before the age of twenty were offspring of second-cousin marriages. Other children in the extended family developed the disease later and may have had somewhat less severe symptoms. The original hypothesis that the severe, early onset cases occurred among those homozygous for a monogenic trait became improbable on mathematical analysis. We conclude that the inheritance of otosclerosis in this family is polygenic and probably multifactorial. Individuals marrying within the family have a greatly increased risk of giving birth to children who will develop otosclerosis early, and perhaps severly. Those who marry outside the family have a greatly decreased risk. They do, of course have a higher risk than the general population of having children who will at some point experience a conductive hearing loss.
对一个大家庭进行了研究，并绘制了其六代人的家谱。已知有15名亲属患有耳硬化症。其中，仅有的6名在20岁之前患上这种疾病的个体是二级表亲通婚的后代。大家庭中的其他孩子后来患上了这种疾病，症状可能稍轻一些。经过数学分析，最初认为严重的早发性病例发生在单基因性状纯合子中的假设变得不太可能成立。我们得出结论，这个家族中耳硬化症的遗传是多基因的，可能也是多因素的。在家族内部通婚的个体生出早期可能会严重患上耳硬化症孩子的风险大大增加。那些与家族外的人结婚的个体风险则大大降低。当然，他们生出在某个时候会经历传导性听力损失孩子的风险比一般人群要高。
