Nieminen P, Arte S, Pirinen S, Peltonen L, Thesleff I
Department of Pedodontics and Orthodontics, University of Helsinki, Finland.
Hum Genet. 1995 Sep;96(3):305-8. doi: 10.1007/BF00210412.
Hypodontia, congenital lack of one or a few teeth, is an autosomally inherited dominant trait. Homeobox genes MSX1 and MSX2 are expressed in presumptive dental tissues at the stage of initiation of tooth development. Recently, tooth development was shown to be inhibited in transgenic mice lacking a functional Msx1 gene. Here, we studied the relationship of the MSX1 and MSX2 genes to familial hypodontia in five Finnish families with a total of 20 affected individuals, by linkage analysis. The pairwise lod-scores regarding the intragenic microsatellites in the MSX1 and MSX2 genes at a recombination fraction of 0.0 were -3.1 and -3.0, respectively, thus excluding these genes as causative loci for hypodontia in these families.
牙发育不全，即先天性缺少一颗或几颗牙齿，是一种常染色体显性遗传性状。同源框基因MSX1和MSX2在牙齿发育起始阶段的假定牙组织中表达。最近研究表明，缺乏功能性Msx1基因的转基因小鼠的牙齿发育受到抑制。在此，我们通过连锁分析研究了MSX1和MSX2基因与五个芬兰家族中20名受影响个体的家族性牙发育不全之间的关系。在重组率为0.0时，MSX1和MSX2基因内微卫星的成对连锁值分别为-3.1和-3.0，因此排除了这些基因作为这些家族牙发育不全致病位点的可能性。
