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Updated: Jan 31, 2026

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein
Published on: March 9, 2015
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
Sylvia Schucht1, Rebecca Minso2, Christiane Lex1
1Pediatric Pulmonary and Allergology Outpatient Clinic, Paediatric Cardiology and Intensive Care Medicine, Universitätsmedizin Göttingen, Göttingen, Germany.
Background:
The impact of complex alleles on CFTR processing and function has yet not been investigated in native human tissue.
Methods:
Intestinal current measurements (ICM) followed by CFTR immunoblot were performed on rectal biopsies taken from two siblings who are compound heterozygous for the CFTR mutations p.Phe508del and the complex allele p.[Arg74Trp;Val201Met;Asp1270Asn].
Results:
Normal and subnormal chloride secretory responses in the ICM were associated with normal and fourfold reduced amounts of the mature glycoform band C CFTR, respectively, consistent with the unequal clinical phenotype of the siblings.
Conclusion:
The combined use of bioassay and protein analysis is particularly meaningful to resolve the CFTR phenotype of "indeterminate" borderline CFTR genotypes on a case-to-case basis.
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