The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis

被引：48

作者：

Ritzka, M

Stanke, F

Jansen, S

Gruber, AD

Pusch, L

Woelfl, S

Veeze, HJ

Halley, DJ

Tümmler, B

机构：

[1] Hannover Med Sch, Dept Pediat, D-30625 Hannover, Germany

[2] Hannover Med Sch, Clin CF Res Grp, D-30625 Hannover, Germany

[3] Hannover Sch Vet Med, Dept Pathol, D-30559 Hannover, Germany

[4] Clin Univ Jena, AG Mol Biol, Clin Internal Med 2, D-07747 Jena, Germany

[5] Clin Univ Jena, AG Mol Biol, Clin Neurosurg, D-07747 Jena, Germany

[6] Ijsselland Hosp, NL-2900 AR Capelle aan den IJssel, Netherlands

[7] Erasmus MC, Dept Clin Genet, NL-3015 GE Rotterdam, Netherlands

来源：

HUMAN GENETICS | 2004年 / 115卷 / 06期

关键词：

CaCC; CF; CLCA; DIDS-sensitive Cl- conductance; human chromosome 1p;

D O I：

10.1007/s00439-004-1190-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying CF transmembrane conductance regulator (CFTR)-independent residual chloride conductance in gastrointestinal epithelia. Statistically significant association of the electrophysiological phenotype with the allele distribution of markers 5' of and within the CLCA locus was observed. Transmission disequilibrium and the significance of the association decreased within the locus from hCLCA2 towards hCLCA4. Expression of hCLCA1 and hCLCA4 in human rectal mucosa was proven by microarray analysis. The CLCA gene region was identified to encode mediators of DIDS-sensitive anion conductance in the human gastrointestinal tract that modulate the CF basic defect.

引用

页码：483 / 491

页数：9

共 67 条

[1] The interacting binding domains of the β4 integrin and calcium-activated chloride channels (CLCAs) in metastasis [J].