X连锁低磷血症性佝偻病基因定位于Xp22.1的一个200 - 300kb区域，且位于一个含有假定维生素D反应元件（VDRE）的单个酵母人工染色体上。
The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).
作者信息
Rowe P S, Goulding J N, Francis F, Oudet C, Econs M J, Hanauer A, Lehrach H, Read A P, Mountford R C, Summerfield T, Weissenbach J, Fraser W, Drezner M K, Davies K E, O'Riordan J L
机构信息
University College London, Department of Medicine, UK.
出版信息
Hum Genet. 1996 Mar;97(3):345-52. doi: 10.1007/BF02185769.
The location of the HYP gene, which determines X-linked hypophosphataemic rickets, has been refined considerably by linkage analysis, and three new microsatellite primers isolated, Cap32 (DXS7473), Cap29 (DXS7474) and 7v2 (DXS7475). The locations of four other markers have also been determined (DXS1226, AFMa176zb1, AFMa152wc5, and AFM346azc1). Markers Cap29 and Cap32 are the closest distal markers to the gene with zetamax=11.93, thetamax= 0.018 and zetamax=12.03, thetamax = 0.015 respectively. Both Cap29 and Cap32 are proximal to DXS365 and AFMa176zb1, as deduced by screening non-chimaeric yeast artificial chromosomes (YACs) from a contig spanning the HYP gene. A single crossover places AFMa176zbl distal to the disease gene. There are no recombinations between 7v2 and HYP (zetamax=12.9, thetamax=0.0), or between 7v2 and adjacent markers Cap32, Cap29, AFMa176zb1, DXS1683 and DXS365. However screening of YAC clones encompassing the HYP gene and also P1 clones localises 7v2 distal to Cap29 and Cap32, and proximal to DXS443. Marker DXS1226 is placed outside the region containing the gene, and is located proximal to DXS274 as confirmed by a crossover for this marker and DXS41 against HYP and its presence on YAC 83B05. Genetic mapping of CEPH pedigrees, and screening of YACs places AFMa152wc5 and AFMa346zcl between DXS1683 and DXS1052. The following gene marker map presents the best order for the HYP region: Xptel-DXS43-DXS999-DXS443-(DXS365/DXS74 75/AFMa176zb1)-(DXS7474/DXS7473)-HYP- DXS1683-(AFMa152wc5/AFMa346zc1)-DXS1052-DXS 274 -(DXS41/DXS1226)-Xcen. The distance between the cluster of distal flanking markers Cap29 (DXS7474), Cap32 (DXS7473), and DXS1683 is approximately 300 kb, as deduced from physical map data from a YAC contig spanning the gene. Thus the gene for HYP is contained within a single YAC (900AO472). Of further interest, is the location of a putative vitamin D response element (VDRE) on this YAC.
通过连锁分析，已相当精确地确定了决定X连锁低磷血症性佝偻病的HYP基因的位置，并分离出三个新的微卫星引物，即Cap32（DXS7473）、Cap29（DXS7474）和7v2（DXS7475）。还确定了其他四个标记的位置（DXS1226、AFMa176zb1、AFMa152wc5和AFM346azc1）。标记Cap29和Cap32是距离该基因最近的远端标记，其最大Z值分别为11.93、最大θ值为0.018以及最大Z值为12.03、最大θ值为0.015。通过筛选来自跨越HYP基因的重叠群的非嵌合酵母人工染色体（YAC）推断，Cap29和Cap32均位于DXS365和AFMa176zb1的近端。一次单交换使AFMa176zbl位于疾病基因的远端。7v2与HYP之间（最大Z值=12.9，最大θ值=0.0），或7v2与相邻标记Cap32、Cap29、AFMa176zb1、DXS1683和DXS365之间均无重组。然而，对包含HYP基因的YAC克隆以及P1克隆的筛选将7v2定位在Cap29和Cap32的远端，以及DXS443的近端。标记DXS1226位于包含该基因的区域之外，并且如该标记与DXS41针对HYP的一次交换以及其在YAC 83B05上的存在所证实的，位于DXS274的近端。CEPH家系的遗传图谱绘制以及YAC的筛选将AFMa152wc5和AFMa346zcl定位在DXS1683和DXS
1052之间。以下基因标记图谱展示了HYP区域的最佳顺序：Xptel - DXS43 - DXS999 - DXS443 -（DXS365 / DXS7475 / AFMa176zb
1）-（DXS7474 / DXS7473）- HYP - DXS1683 -（AFMa152wc5 / AFMa346zc1）- DXS1052 - DXS274 -（DXS41 / DXS1226）- Xcen。根据来自跨越该基因的YAC重叠群的物理图谱数据推断，远端侧翼标记Cap29（DXS7474）、Cap32（DXS7473）和DXS1683之间的距离约为300 kb。因此，HYP基因包含在单个YAC（900AO472）中。更有趣的是，该YAC上一个假定的维生素D反应元件（VDRE）的位置。
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