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关于缺牙症和小牙症的遗传学:一个有六名患病成员的家族中主要基因的协同作用或等位性

On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.

作者信息

Lyngstadaas S P, Nordbo H, Gedde-Dahl T, Thrane P S

机构信息

Laboratory for Molecular Biology, Department of Oral Pathology, Faculty of Dentistry, University of Oslo, Norway.

出版信息

J Med Genet. 1996 Feb;33(2):137-42. doi: 10.1136/jmg.33.2.137.

Abstract

Familial severe hypodontia of the permanent dentition is a rare condition. The genetics of this entity remains unclear and several modes of inheritance have been suggested. We report here an increase in the number of congenitally missing teeth after the mating of affected subjects from two unrelated Norwegian families. This condition may be the result of allelic mutations at a single gene locus. Alternatively, incompletely penetrant non-allelic genes may show a synergistic effect as expected for a multifactorial trait with interacting gene products. This and similar kindreds may allow identification of genes involved in growth and differentiation of dental tissues by linkage and haplotype association analysis. Brittle nails, delayed growth of the hair, and delayed teething in the probands support the grouping of these conditions among the ectodermal dysplasias.

摘要

家族性恒牙列严重牙缺失是一种罕见的病症。该病症的遗传学尚不清楚,已有多种遗传模式被提出。我们在此报告,来自两个不相关的挪威家族的患病个体交配后,先天性缺牙数量增加。这种情况可能是单个基因座上等位基因突变的结果。或者,不完全显性的非等位基因可能表现出协同效应,这与具有相互作用基因产物的多因素性状预期一致。通过连锁和单倍型关联分析,此类及类似家系可能有助于鉴定参与牙组织生长和分化的基因。先证者出现的脆甲、头发生长迟缓及出牙延迟,支持将这些病症归类于外胚层发育不良。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e41/1051840/b4721b06da96/jmedgene00256-0051-a.jpg

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