Derst C, Döring F, Preisig-Müller R, Daut J, Karschin A, Jeck N, Weber S, Engel H, Grzeschik K H
Institute for Normal and Pathological Physiology, University of Marburg, Marburg, 35033, Germany.
Genomics. 1998 Dec 15;54(3):560-3. doi: 10.1006/geno.1998.5598.
The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approach revealed a single 2088-bp intron in the coding region of KCNJ13. PCR analysis of monochromosomal and radiation hybrid panels assigns KCNJ13 to band 2q37 between markers D2S331 and D2S345. In addition, a single nucleotide polymorphism (C524-->T), leading to an exchange of a Thr with an Ile residue at amino acid position 175, was found.
新型弱内向整流钾通道Kir7.1是一种低电导通道，主要在上皮细胞中表达。在此，我们描述了人类Kir7.1基因（KCNJ13）的部分基因组特征及染色体定位。使用基于PCR的方法对基因组结构进行分析，发现在KCNJ13的编码区域有一个2088 bp的单一内含子。对单染色体和辐射杂种细胞系进行PCR分析，将KCNJ13定位于标记D2S331和D2S345之间的2q37带。此外，还发现了一个单核苷酸多态性（C524→T），该多态性导致在氨基酸位置175处苏氨酸与异亮氨酸残基发生交换。
