Aplin H M, Hirst K L, Crosby A H, Dixon M J
School of Biological Sciences, University of Manchester, United Kingdom.
Genomics. 1995 Nov 20;30(2):347-9. doi: 10.1006/geno.1995.9867.
Dentinogenesis imperfecta type II (DGI1) is an autosomal dominant disorder of dentin formation, which has been mapped to human chromosome 4q12-q21. The region most likely to contain the DGI1 locus is a 3.2-cM region surrounding the osteopontin (SPP1) locus. Recently, a novel dentin-specific acidic phosphoprotein (dmp1) has been cloned in the rat and mapped to mouse chromosome 5q21. In the current investigation, we have isolated a cosmid containing the human DMP1 gene. The isolation of a short tandem repeat polymorphism at this locus has allowed us to map the DMP1 locus to human chromosome 4q21 and demonstrate that it is tightly linked to DGI1 in two families (Zmax = 11.01, theta = 0.001). The creation of a yeast artificial chromosome contig around SPP1 has further allowed us to demonstrate that DMP1 is located within 150 kb of the bone sialoprotein and 490 kb of the SPP1 loci, respectively. DMP1 is therefore a strong candidate for the DGI1 locus.
II型牙本质发育不全（DGI1）是一种常染色体显性遗传的牙本质形成障碍疾病，已被定位于人类染色体4q12 - q21。最有可能包含DGI1基因座的区域是围绕骨桥蛋白（SPP1）基因座的一个3.2厘摩区域。最近，一种新的牙本质特异性酸性磷酸蛋白（dmp1）已在大鼠中克隆出来，并定位于小鼠染色体5q21。在当前的研究中，我们分离出了一个包含人类DMP1基因的黏粒。在该基因座分离出一个短串联重复多态性，使我们能够将DMP1基因座定位于人类染色体4q21，并在两个家系中证明它与DGI1紧密连锁（Zmax = 11.01，θ = 0.001）。围绕SPP1构建酵母人工染色体重叠群，进一步使我们能够证明DMP1分别位于骨唾液蛋白基因座的150 kb范围内和SPP1基因座的490 kb范围内。因此，DMP1是DGI1基因座的一个强有力候选基因。
