确定X连锁低磷血症性佝偻病图谱位置的桥接标记
Bridging markers defining the map position of X linked hypophosphataemic rickets.
作者信息
Thakker R V, Read A P, Davies K E, Whyte M P, Weksberg R, Glorieux F, Davies M, Mountford R C, Harris R, King A
机构信息
Department of Medicine, Middlesex Hospital, London.
出版信息
J Med Genet. 1987 Dec;24(12):756-60. doi: 10.1136/jmg.24.12.756.
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.
低磷性佝偻病通常是一种X连锁显性遗传性疾病，与肾小管磷酸盐转运缺陷及骨骼畸形有关。通过在患病家族的连锁研究中使用克隆的人类X染色体序列来鉴定限制性片段长度多态性（RFLP），已将导致该疾病的基因定位到Xp22.31----p21.3。低磷性佝偻病基因位点（HPDR）先前被定位在X连锁多态性位点DXS41（99.6）的远端，但它相对于远端位点DXS43（D2）和DXS85（782）的位置尚未确定。为了获得该疾病位点相对于这些基因位点的精确图谱，对另外一些携带这些X连锁标记且信息丰富的患病家族进行了研究。两项研究的综合结果确定了与位点DXS41（99.6）和DXS43（D2）的连锁关系；DXS41（99.6）的最高对数优势分数 = 7.35，θ = 0.09，DXS43（D2）的最高对数优势分数 = 4.77，θ = 0.16。多位点连锁分析将低磷性佝偻病基因定位在DXS41（99.6）位点的远端和DXS43（D2）位点的近端，从而揭示了该疾病的两个桥接遗传标记。
Zotero 插件