Analysis of ΔF508 Mutation in Cystic Fibrosis Pathology Specimens

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

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

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

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

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

T. Coşkun Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara, Turkey

A. Can Department of Histology-Embryology, Ankara University Faculty of Medicine, Sihhiye, Ankara, Turkey

S. Gögüş Department of Pediatrics Division of Pediatric Pathology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey

M. Çaglar Department of Pediatrics Division of Pediatric Pathology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey

G. Kale Department of Pediatrics Division of Pediatric Pathology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey

Z. Akçören Department of Pediatrics Division of Pediatric Pathology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey

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Abstract

Incidence of ΔF508, 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 ΔF508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.

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Analysis of ΔF508 Mutation in Cystic Fibrosis Pathology Specimens

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Analysis of ΔF508 Mutation in Cystic Fibrosis Pathology Specimens

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