Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13)

被引：16

作者：

Derst, C ^{[1
]}

Döring, F

Preisig-Müller, R

Daut, J

Karschin, A

Jeck, N

Weber, S

Engel, H

Grzeschik, KH

机构：

[1] Univ Marburg, Inst Normal & Pathol Physiol, D-35033 Marburg, Germany

[2] Univ Marburg, Dept Pediat, D-35033 Marburg, Germany

[3] Univ Marburg, Inst Human Genet, D-35033 Marburg, Germany

[4] Max Planck Inst Biophys Chem, D-37070 Gottingen, Germany

来源：

GENOMICS | 1998年 / 54卷 / 03期

关键词：

D O I：

10.1006/geno.1998.5598

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The novel weakly inward rectifying potassium channel K(ir)7.1 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 K(ir)7.1 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 ne residue at amino acid position 175, was found. (C) 1998 Academic Press.

引用

页码：560 / 563

页数：4

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