Analysis of delta F508 mutation in cystic fibrosis pathology specimens

M Ozgüç; A Tekin; H Erdem; E Yilmaz; S Ayter; T Coşkun; A Can; S Gögüş; M Caglar; G Kale

doi:10.3109/15513819409024278

Analysis of delta F508 mutation in cystic fibrosis pathology specimens

Pediatr Pathol. 1994 May-Jun;14(3):491-6. doi: 10.3109/15513819409024278.

Authors

M Ozgüç¹, A Tekin, H Erdem, E Yilmaz, S Ayter, T Coşkun, A Can, S Gögüş, M Caglar, G Kale, et al.

Affiliation

¹ Department of Medical Biology, Hacettepe University, Faculty of Medicine, Sihhiye Ankara, Turkey.

PMID: 7520582
DOI: 10.3109/15513819409024278

Abstract

Incidence of delta F508, a severe mutation of the CFTR gene is found to be 36.3% in paraffin block cystic fibrosis liver tissues. Samples are histologically grouped according to severity of pancreatic involvement. Two families where delta F508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.

MeSH terms

Age Factors
Base Sequence
Cystic Fibrosis / genetics*
Cystic Fibrosis / pathology
Cystic Fibrosis Transmembrane Conductance Regulator
DNA / analysis*
DNA Primers
Family Health
Female
Genotype
Humans
Liver / pathology
Male
Membrane Proteins / genetics*
Molecular Sequence Data
Mutation* / genetics
Pancreas / pathology
Paraffin Embedding
Polymerase Chain Reaction
Prenatal Diagnosis
Random Allocation
Retrospective Studies

Substances

CFTR protein, human
DNA Primers
Membrane Proteins
Cystic Fibrosis Transmembrane Conductance Regulator
DNA