Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county.
Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county.
复制标题
釉质生成不全——瑞典北部一个县 51 个家庭的临床表现。
DOI：
--
复制
发表时间：
1988
期刊：
影响因子：
--
通讯作者：
B. Bäckman
中科院分区：
文献类型：
--
作者：
B. Bäckman
本文报道了51个家系165例釉质发育异常（AI）的临床表现。这些家族中AI的遗传模式以前曾被研究过，并假设AI可能只是一种常染色体显性（AD）或X连锁性状。为了验证这一假设，临床表现和遗传模式之间的联系进行了研究。我们看到了八种不同的AI变体。在33/51个家庭中，所有受影响的个人都可以被分配到相同的临床变异。在8/51个家庭中，受影响的人被分配到不同的临床变异。在X连锁隐性（XR）遗传模式被发现可能的两个家庭中，女性和男性之间的临床表现不同。除了一个变体仅被视为AD性状，以及X连锁隐性遗传模式家庭中女性的表现外，未发现特定遗传模式与特定临床表现之间存在联系。因此，AI似乎只是一种AD或X连锁特征。观察到的不同临床变异应被视为基因的不同表达能力，并且在X连锁遗传的家族中可能是由于Lyonization。在其余的家庭的修改机制是未知的。
The clinical manifestations of amelogenesis imperfecta (AI) were described in 165 individuals from 51 families. The inheritance pattern for AI in these families had previously been investigated, and it was hypothesized that AI probably is solely an autosomal dominant (AD) or X-linked trait. To test this hypothesis the connection between clinical manifestation and inheritance pattern was studied. Eight different variants of AI were seen. In 33/51 families all affected individuals could be assigned to the same clinical variant. In 8/51 families those affected were assigned to different clinical variants. In the two families where an X-linked recessive (XR) inheritance pattern was found probable, the clinical manifestation differed between women and men. Except for one variant only seen as an AD trait, and the manifestation in women in families with an X-linked recessive inheritance pattern, no connection was found between a specific inheritance pattern and a specific clinical manifestation. Accordingly it seems likely that AI is solely an AD or X-linked trait. The different clinical variants observed should be regarded as a varying expressivity of the gene and in the families with X-linked inheritance probably due to lyonization. In the remaining families the modifying mechanisms are not known.