Weeks D E, Nygaard T G, Neystat M, Harby L D, Wilhelmsen K C
University of Pittsburgh, Department of Human Genetics, Pennsylvania 15261, USA.
Genomics. 1995 Mar 1;26(1):39-46. doi: 10.1016/0888-7543(95)80080-6.
We generated a high-resolution genetic linkage map of the pericentromeric region of the human X chromosome from approximately Xp11.4 to Xq22. This map contains 41 loci defined by 50 marker systems genotyped in the CEPH families. For this study we have generated 3 new markers (DXS1689, DXS1690, and DXS159) and 2 new primer sequences for previously described markers (PGK1P1 and AR). Using two different mapping algorithms based on genotype data alone, we developed two well-supported framework maps containing 15 and 18 markers with average interval sizes of 2.7 and 1.7 cM. The 18 marker map is [DXS426, PFC]-2.0-DXS255-1.2-DXS991-1.6-AR-1.3-DXS153-2.0-DX S106-1.5-DXS132-0.6- DXS1690-0.8-DXS453-1.4-DXS559-1.5-[PGK1, DXS56]-0.6-DXS1002-1.8-DXYS1X-2.0-DXS3-7.5-DX S458-2.8-DXS454, where the distance between adjacent loci is in centimorgans. As a third approach, we used physical mapping data to define bins for markers; this approach permitted us to place 26 markers on our framework map. Finally, we constructed a map based on the physical order of 35 markers from the fifth international workshop on human X chromosome mapping. A comparison of the physical and genetic maps indicates a relationship of 2 cM per megabase in this region, with two regions of reduced recombination. The first is around the centromere (DXZ1), and the second is in the region around PGK1 (DXS441 to DXS995). Our maps should aid in the fine-mapping of the many disease loci that localize to this region of the X chromosome.
我们构建了人类X染色体着丝粒周围区域从大约Xp11.4到Xq22的高分辨率遗传连锁图谱。该图谱包含由在CEPH家系中进行基因分型的50个标记系统定义的41个位点。在本研究中，我们生成了3个新标记（DXS1689、DXS1690和DXS159）以及2个针对先前描述标记（PGK1P1和AR）的新引物序列。仅基于基因型数据使用两种不同的定位算法，我们构建了两个得到充分支持的框架图谱，分别包含15个和18个标记，平均间隔大小为2.7和1.7厘摩。18个标记的图谱为[DXS426, PFC]-2.0-DXS255-1.2-DXS991-1.6-AR-1.3-DXS153-2.0-DXS106-1.5-DXS132-0.6-DXS1690-0.8-DXS453-1.4-DXS559-1.5-[PGK1, DXS56]-0.6-DXS1002-1.8-DXYS1X-2.0-DXS3-7.5-DXS458-2.8-DXS454，其中相邻位点之间的距离以厘摩为单位。作为第三种方法，我们使用物理图谱数据为标记定义区间；这种方法使我们能够在框架图谱上放置26个标记。最后，我们根据来自第五届人类X染色体定位国际研讨会的35个标记的物理顺序构建了一个图谱。物理图谱和遗传图谱的比较表明该区域每兆碱基有2厘摩的关系，有两个重组减少的区域。第一个区域围绕着丝粒（DXZ1），第二个区域在PGK1周围（DXS441至DXS995）。我们的图谱应有助于对定位于X染色体该区域的许多疾病位点进行精细定位。
