Abstract:
: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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Ritzka M,Stanke F,Jansen S,Gruber AD,Pusch L,Woelfl S,Veeze HJ,Halley DJ,Tümmler Bdoi
10.1007/s00439-004-1190-ykeywords:
subject
Has Abstractpub_date
2004-11-01 00:00:00pages
483-91issue
6eissn
0340-6717issn
1432-1203journal_volume
115pub_type
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