Donnelly A J, Choo K H, Kozman H M, Gedeon A K, Danks D M, Mulley J C
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.
Am J Med Genet. 1994 Jul 15;51(4):581-5. doi: 10.1002/ajmg.1320510457.
A gene responsible for a non-specific form of X-linked mental retardation (MRX19) was localised by linkage analysis. Exclusions and regional localisation were made using 21 highly informative PCR-based markers along the X chromosome. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS207, DXS987 (Zmax = 3.58) and DXS999 (Zmax = 3.28) indicating that this gene is localised to the proximal portion of Xp22. Recombination between MRX19 and the flanking loci KAL and DXS989 was observed. The multipoint CEPH background map, with map distances in cM, is DXS996-1.8-KAL-19.0-DXS207-0.9-[DXS987,DXS443 ]-4.3-DXS999-3.5-DXS365-14.0-DXS989. Two other MRX disorders and two syndromal mental retardations, Coffin-Lowry syndrome and Partington syndrome, have been mapped to this region. There is a possibility that the 3 MRX disorders are the same entity. Most MRX disorders remain clustered around the pericentromeric region.
通过连锁分析定位了一个与X连锁智力迟钝非特异性形式（MRX19）相关的基因。沿着X染色体使用21个基于PCR的高信息量标记进行排除和区域定位。在重组率为零时，标记位点DXS207、DXS987（Zmax = 3.58）和DXS999（Zmax = 3.28）检测到显著的lod分数，表明该基因定位于Xp22的近端部分。观察到MRX19与侧翼位点KAL和DXS989之间发生了重组。多点CEPH背景图谱（图距以厘摩计）为DXS996 - 1.8 - KAL - 19.0 - DXS207 - 0.9 - [DXS987, DXS443] - 4.3 - DXS999 - 3.5 - DXS365 - 14.0 - DXS989。另外两种MRX疾病以及两种综合征性智力迟钝，即科芬 - 洛里综合征和帕廷顿综合征，已定位到该区域。这三种MRX疾病有可能是同一实体。大多数MRX疾病仍聚集在着丝粒周围区域。
