Himmelbauer H, Pohlschmidt M, Snarey A, Germino G G, Weinstat-Saslow D, Somlo S, Reeders S T, Frischauf A M
Imperial Cancer Research Fund, Department of Molecular Analysis of Mammalian Mutation, London, United Kingdom.
Genomics. 1992 May;13(1):35-8. doi: 10.1016/0888-7543(92)90198-2.
Autosomal dominant polycystic kidney disease (PKD1) is linked to the alpha-globin locus near the telomere of chromosome 16p. We established the existence of a conserved linkage group in mouse by mapping conserved sequences and cDNAs from the region surrounding the PKD1 gene in the mouse genome. Results obtained with the BXD recombinant strain system and somatic cell hybrids show the homologous region to be located on mouse chromosome 17 near the globin pseudogene Hba-ps4, an unprocessed alpha-like globin gene. The markers we mapped are widely distributed over the region known to contain the PKD1 gene, and it is therefore likely that the mouse homologue of PKD1 is also located on mouse chromosome 17.
常染色体显性多囊肾病(PKD1)与16号染色体短臂端粒附近的α-珠蛋白基因座相连。我们通过在小鼠基因组中定位PKD1基因周围区域的保守序列和cDNA,确定了小鼠中存在一个保守的连锁群。用BXD重组品系系统和体细胞杂种获得的结果表明,同源区域位于小鼠17号染色体上靠近珠蛋白假基因Hba-ps4(一个未加工的α-样珠蛋白基因)的位置。我们定位的标记广泛分布在已知包含PKD1基因的区域,因此PKD1的小鼠同源物很可能也位于小鼠17号染色体上。