The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2.
The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2.
复制标题
小鼠先天性多囊肾 (cpk) 基因座位于 12 号染色体标记 D12Nyu2 1.3 cM 范围内。
DOI：
10.1006/geno.1994.1285
复制
发表时间：
1994
期刊：
影响因子：
4.4
通讯作者：
Guay-Woodford,LM
中科院分区：
文献类型：
--
作者：
Simon,EA;Cook,S;Davisson,MT;D'Eustachio,P;Guay-Woodford,LM
小鼠先天性多囊肾（cpk）突变导致肾集合管双侧囊性扩张，并导致受影响的纯合子迅速进行性肾功能不全。 cpk/cpk突变体的表型与人类常染色体隐性多囊肾病（ARPKD）的表型非常相似。之前，我们报道了 cpk 位点靠近 12 号染色体 (Chr) 上的 D12Nyu2。为了更精确地确定 cpk 图位置，我们使用附加的后代和近端 Chr 12 的附加标记扩展了之前的研究。这些最近的研究将 cpk 定位在 D12Nyu2 的 1.3 cM 范围内，紧邻 (Odc, D12Mit10) 和 (Tpo, D12Mit12）。我们的数据支持七个 DNA 标记的有序阵列，这将为构建以 cpk 为中心的 Chr 12 区域的物理图提供参考点。此外，这些数据证实 cpk 位于小鼠 Chr 12 和人 Chr 2p24-2p25 之间保守的连锁群内。这种同源区域的分配将有助于人类连锁分析，以确定 mousecpk 和人类 ARPKD 是否是同源基因的突变。
The mouse congenital polycystic kidney (cpk) mutation causes bilateral cystic dilatation of the renal collecting tubules and leads to rapidly progressive renal insufficiency in affected homozygotes. The phenotype of thecpk/cpkmutants closely resembles that of human autosomal recessive polycystic kidney disease (ARPKD). Previously, we have reported that thecpklocus maps close toD12Nyu2on Chromosome (Chr) 12. To determine thecpkmap location more precisely, we have extended our previous studies using additional progeny and additional markers of proximal Chr 12. These recent studies positioncpkwithin 1.3 cM ofD12Nyu2, closely flanked by (Odc, D12Mit10) and (Tpo, D12Mit12). Our data support an ordered array of seven DNA markers that will provide reference points for building a physical map of the Chr 12 region centered oncpk. Moreover, these data establish that cpk lies within a linkage group that is conserved between mouse Chr 12 and human chr 2p24-2p25. This assignment to a region of homology will facilitate human linkage analyses to determine whether mousecpkand human ARPKD are mutations of homologous genes.