IIA型成骨不全症：显性遗传的证据。
Osteogenesis imperfecta type IIA: evidence for dominant inheritance.
作者信息
Young I D, Thompson E M, Hall C M, Pembrey M E
出版信息
J Med Genet. 1987 Jul;24(7):386-9. doi: 10.1136/jmg.24.7.386.
Abstract
Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.
摘要
已确诊30例经放射学证实的IIA型成骨不全症（OI）。所有病例均为散发病例，有19名未受影响的前辈和19名未受影响的后辈同胞。两组父母均为亚洲人，有血缘关系。存在显著的父母年龄效应，以父亲年龄最为明显。结论是，大多数IIA型OI病例是由新的显性突变引起的。
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