Crosby A H, Scherpbier-Heddema T, Wijmenga C, Altherr M R, Murray J C, Buetow K H, Dixon M J
School of Biological Sciences, University of Manchester, England.
Am J Hum Genet. 1995 Oct;57(4):832-9.
Dentinogenesis imperfecta type II (DGI-II) is an autosomal dominant disorder of dentin formation, which has previously been mapped to chromosome 4q12-21. In the current study, six novel short tandem-repeat polymorphisms (STRPs) have been isolated, five of which show significant evidence of linkage to DGI-II. To determine the order of the STRPs and define the genetic distance between them, nine loci (including polymorphisms for two known genes) were mapped through the CEPH reference pedigrees. The resulting genetic map encompasses 16.3 cM on the sex-averaged map. To combine this map with a physical map of the region, all of the STRPs were mapped through a somatic cell hybrid panel. The most likely location for the DGI-II locus within the fixed marker map is in the D4S2691-D4S2692 interval of 6.6 cM. The presence of a marker that shows no recombination with the DGI-II phenotype between the flanking markers provides an important anchor point for the creation of physical continuity across the DGI-II candidate region.
II型牙本质发育不全（DGI-II）是一种常染色体显性遗传的牙本质形成障碍疾病，此前已被定位到4号染色体q12-21区域。在本研究中，分离出了6个新的短串联重复多态性（STRP），其中5个显示出与DGI-II存在显著的连锁证据。为了确定STRP的顺序并界定它们之间的遗传距离，通过CEPH参考家系对9个位点（包括两个已知基因的多态性）进行了定位。在性别平均图谱上，得到的遗传图谱跨度为16.3厘摩（cM）。为了将该图谱与该区域的物理图谱相结合，通过体细胞杂种面板对所有STRP进行了定位。在固定标记图谱中，DGI-II基因座最可能的位置在6.6厘摩的D4S2691-D4S2692区间内。侧翼标记之间存在一个与DGI-II表型无重组的标记，这为在DGI-II候选区域建立物理连续性提供了一个重要的锚定点。
