McPherson J D, Krane M C, Wagner-McPherson C B, Kos C H, Tenenhouse H S
Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63108, USA.
Pediatr Res. 1997 May;41(5):632-4. doi: 10.1203/00006450-199705000-00005.
The precise chromosomal localization of the type II renal-specific Na+-phosphate (Pi) cotransporter (NPT2) gene (gene symbol SLC17A2) is necessary for the identification of closely linked polymorphic markers to determine whether NPT2 is a candidate gene for inherited disorders of renal Pi reabsorption. Recent studies by two different groups localized NPT2 to human chromosome 5q35 and 5q13, respectively. To resolve this discrepancy, we used three independent methods. The results using a human chromosome 5/rodent somatic cell hybrid deletion panel, fluorescence in situ hybridization with a PAC clone containing the NPT2 locus, and analysis of a chromosome 5-specific radiation hybrid panel were all consistent with the 5q35 assignment of the NPT2 gene. The radiation hybrid results placed NPT2 between polymorphic microsatellite markers D5S498 and D5S469. These findings will allow the initiation of linkage analysis to determine if NPT2 has a causative role in Mendelian disorders of renal Pi wasting.
II型肾特异性钠-磷酸盐（Pi）共转运蛋白（NPT2）基因（基因符号SLC17A2）在染色体上的精确定位，对于识别紧密连锁的多态性标记以确定NPT2是否为遗传性肾Pi重吸收障碍的候选基因至关重要。最近两个不同的研究小组分别将NPT2定位于人类染色体5q35和5q13。为了解决这一差异，我们使用了三种独立的方法。使用人类染色体5/啮齿动物体细胞杂交缺失面板、用包含NPT2基因座的PAC克隆进行荧光原位杂交以及对染色体5特异性辐射杂种面板进行分析的结果，均与NPT2基因定位于5q35一致。辐射杂种分析结果将NPT2定位在多态性微卫星标记D5S498和D5S469之间。这些发现将有助于启动连锁分析，以确定NPT2在孟德尔遗传性肾Pi消耗疾病中是否起致病作用。
