Melnick M, Shields E D, Bixler D
Oral Surg Oral Med Oral Pathol. 1976 Jul;42(1):32-41. doi: 10.1016/0030-4220(76)90029-3.
Two families who provide additional data concerning the metabolic, radiographic, and clinical parameters of periodontosis are presented. These findings include decreased serum alkaline phosphatase levels with absent liver isozyme fractions, decreased tubular bone over-all width and medullary space with relatively increased cortical area, and at least one case of primary dentition alveoloclasia with no permanent dentition alveoloclasia. In addition, a segregation analysis was performed on these two families and all completely reported families found in the literature. The results indicate that periodontosis is most probably inherited as an X-linked, dominant trait with decreased penetrance but relatively consistent gene expressivity. The female: male ratio of affected persons is approximately 2:1, and there is an over-all deficiency of males in these affected families.
本文介绍了两个提供有关牙周变性代谢、影像学和临床参数额外数据的家族。这些发现包括血清碱性磷酸酶水平降低且肝脏同工酶组分缺失,管状骨整体宽度和髓腔空间减小而皮质面积相对增加,以及至少一例原发性牙列牙槽骨吸收而恒牙列无牙槽骨吸收的病例。此外,对这两个家族以及文献中所有完整报告的家族进行了分离分析。结果表明,牙周变性很可能作为一种X连锁显性性状遗传,其外显率降低但基因表达相对一致。受影响者的女性与男性比例约为2:1,且这些受影响家族中男性总体不足。