AMELOGENESIS IMPERFECTA - A GENETIC-STUDY
AMELOGENESIS IMPERFECTA - A GENETIC-STUDY
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DOI：
10.1159/000153785
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发表时间：
1988-07-01
期刊：
影响因子：
1.8
通讯作者：
HOLMGREN, G
中科院分区：
文献类型：
--
作者：
BACKMAN, B;HOLMGREN, G
对瑞典北方Västerbotten县的51个家族中的釉质发育不全（AI）的遗传方式和临床表现进行了研究。在33个家系中，常染色体显性遗传（AD）是最可能的遗传方式，但在一个家系中，X连锁显性遗传（XD）是可能的替代遗传方式。6个家系可能为常染色体隐性遗传，2个家系可能为X连锁隐性遗传。10例先证者为散发病例。在有AD遗传的家系中，患病和非患病病例之间观察到性别差异，患病组中女性过多（p < 0.05）。除78例指示病例外，还诊断出107例新病例。AI的临床表现可分为两种形式，发育不良型占72%，低矿化型占28%。AD遗传见于89%的发育不良型病例和44%的低矿化型病例。在大多数具有AD或AR遗传的家族中，每个家族都表现出发育不良或低矿化缺陷的特征性表现。在3个家系中，既有发育不全型AI，也有低矿化型AI。在X连锁遗传的家族中，女性和男性的临床表现不同，男性受影响更严重。
The mode of inheritance and the clinical manifestations of amelogenesis imperfecta (AI) were studied in 51 families from the county of Västerbotten, northern Sweden. Autosomal dominant (AD) was the most probable mode of inheritance in 33 families, but X-linked dominant (XD) inheritance was a possible alternative in one family. Autosomal recessive (AR) inheritance was found likely in 6 and X-linked recessive inheritance in 2 families. Ten probands were sporadic cases. In the families with AD inheritance, a sex difference was observed between affected and non-affected cases, with an excess of females in the affected group (p < 0.05). In addition to the 78 index cases, 107 new cases were diagnosed. The clinical manifestations of AI observed could be divided into 2 forms, the hypoplastic form in 72% and the hypomineralization form in 28% of the individuals. AD inheritance was seen in 89% of the cases with the hypoplastic form, and in 44% of the cases with the hypomineralization form. In most families with AD or AR inheritance, each family displayed a characteristic manifestation of either hypoplastic or hypomineralization defects. In 3 families, both hypoplastic and hypomineralization forms of AI were seen. In families with X-linked inheritance, the clinical manifestation differed between females and males with males more seriously affected.