Bridging markers defining the map position of X linked hypophosphataemic rickets.
Bridging markers defining the map position of X linked hypophosphataemic rickets.
复制标题
桥接标记定义了 X 连锁低磷血症性佝偻病的图谱位置。
作者：
Rajesh V. Thakker;A. P. Read;Kay E. Davies;Michael P. Whyte;R. Weksberg;Francis H. Glorieux;Michael A. Davies;R. Mountford;Rodney Harris;A. King
低磷血症佝偻病通常是一种X连锁的显性遗传性疾病，与磷酸盐运输中的肾小管缺陷和骨畸形有关。利用克隆的人类X染色体序列鉴定受影响家族的限制性片段长度多态性（RFLPs），将导致这种疾病的基因定位为Xp22.31----p21.3。低磷血症佝偻病基因位点（HPDR）先前定位于X连锁多态性位点DXS41（99.6）的远端，但其与远端位点DXS43 （D2）和DXS85（782）的位置尚未确定。为了获得与这些遗传位点相关的疾病位点的精确图谱，对这些X连锁标记的其他受影响家庭进行了调查。两项研究的综合结果与位点DXS41（99.6）和DXS43 （D2）建立了连锁关系；DXS41（99.6）的峰值负荷得分= 7.35,theta = 0.09, DXS43 （D2）的峰值负荷得分= 4.77,theta = 0.16。多位点连锁分析将低磷血症佝偻病基因定位在远端DXS41（99.6）位点和近端DXS43 （D2）位点，从而揭示了该疾病的两个桥接遗传标记。
Hypophosphataemic rickets is commonly an X linked dominant hereditary disorder associated with a renal tubular defect in phosphate transport and bone deformities. The gene causing this disorder has been mapped to Xp22.31----p21.3 by using cloned human X chromosome sequences identifying restriction fragment length polymorphisms (RFLPs) in linkage studies of affected families. The hypophosphataemic rickets gene locus (HPDR) was previously mapped distal to the X linked polymorphic locus DXS41 (99.6) but its position in relation to the distal loci DXS43 (D2) and DXS85 (782) was not established. In order to obtain a precise mapping of the disease locus in relation to these genetic loci, additional affected families informative for these X linked markers have been investigated. The combined results from the two studies have established linkage with the loci DXS41 (99.6) and DXS43 (D2); peak lod score for DXS41 (99.6) = 7.35, theta = 0.09, and peak lod score for DXS43 (D2) = 4.77, theta = 0.16. Multilocus linkage analysis mapped the hypophosphataemic rickets gene distal to the DXS41 (99.6) locus and proximal to the DXS43 (D2) locus, thereby revealing two bridging genetic markers for the disease.
人类 X 染色体 Xp21 区域 DNA 序列的定位：寻找靠近杜氏肌营养不良基因座的分子标记。
影响因子：
9.8
作者：
deMartinville,B;Kunkel,LM;Bruns,G;Morlé,F;Koenig,M;Mandel,JL;Horwich,A;Latt,SA;Gusella,JF;Housman,D
通讯作者：
Housman,D