Rapid publication: Flanking markers define the X‐linked hypophosphatemic rickets gene locus
Rapid publication: Flanking markers define the X‐linked hypophosphatemic rickets gene locus
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快速发表：侧翼标记定义了 X 连锁低磷血症性佝偻病基因座
DOI：
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发表时间：
1993
影响因子：
6.2
通讯作者：
M. Drezner
中科院分区：
文献类型：
--
作者：
M. Econs;P. Fain;Michael Norman;M. Speer;M. Pericak;Peggy A. Becker;D. Barker;A. Taylor;M. Drezner
X连锁低磷血症(HYP)是一种X连锁的显性遗传性疾病，其特征是肾小管磷酸盐重吸收减少，继而发生低磷血症。管状磷酸盐重吸收的缺陷可能是继发于不明体液因素。体液因素的鉴定和对疾病病理生理学的充分理解有待于HYP基因的鉴定。以前我们证明了DXS257和DXS41是HYP基因的侧翼标记。两个标记DXS365和DXS274与HYP基因紧密相连，但研究人员一直无法确定它们是疾病基因的着丝粒还是端粒。由于紧密连锁的侧翼标记是通过位置克隆技术获得该基因的必要前提，我们试图通过扩大我们的连锁研究的数据库来确定这些标记与HYP基因的相对位置。我们还研究了一种新的与HYP连锁的多态探针，以构建更详细的HYP基因座周围的遗传图谱。我们的数据表明，标记DXS365、DXS274和DXS92与HYP紧密连锁，并提示Xtel‐(DXS444/DXS315)‐DXS43‐(DXS257/DXS365)‐HYP‐(DXS274/DXS41/DXS92)‐DXS451‐DXS319‐Xcen.的基因座顺序这些结果为进一步定位和克隆HYP基因奠定了基础。
X‐linked hypophosphatemic rickets (HYP) is an X‐linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. The defect in tubular phosphate reabsorption is probably secondary to an unidentified humoral factor. Identification of the humoral factor and a full understanding of the pathophysiology of the disease await the identification of the HYP gene. Previously we demonstrated that DXS257 and DXS41 are flanking markers for the HYP gene. Two markers, DXS365 and DXS274, are tightly linked to the HYP gene, but investigators have been unable to determine whether they are centromeric or telomeric to the disease gene. Since tightly linked flanking markers are necessary prerequisites to obtain the gene by positional cloning techniques, we sought to determine the relative positions of these markers to the HYP gene by expanding our data base for linkage studies. We also investigated a new polymorphic probe for linkage to HYP to construct a more detailed genetic map around the HYP locus. Our data indicate that the markers DXS365, DXS274, and DXS92 are tightly linked to the HYP locus and suggest a locus order of Xtel‐(DXS444/DXS315)‐DXS43‐(DXS257/DXS365)‐HYP‐(DXS274/DXS41/DXS92)‐DXS451‐DXS319‐Xcen. These results will facilitate attempts further to localize and clone the HYP gene.
X连锁低磷血症性佝偻病基因的多位点作图。
DOI：
10.1210/jcem.75.1.1352307
发表时间：
1992
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Econs,MJ;Barker,DF;Speer,MC;Pericak-Vance,MA;Fain,PR;Drezner,MK
通讯作者：
Drezner,MK
人类甘氨酸受体：一种与 X 连锁低磷血症性佝偻病基因相关的新探针。
影响因子：
4.4
作者：
Econs,MJ;Pericak-Vance,MA;Betz,H;Bartlett,RJ;Speer,MC;Drezner,MK
通讯作者：
Drezner,MK
17 号染色体上 NF1 区域的精细物理和遗传图谱。
影响因子：
9.8
作者：
Fain,PR;Goldgar,DE;Wallace,MR;Collins,FS;Wright,E;Nguyen,K;Barker,DF
通讯作者：
Barker,DF