Analysis of delta F508 mutation in cystic fibrosis pathology specimens.
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.
Ozgüç
M
M
Department of Medical Biology, Hacettepe University, Faculty of Medicine, Sihhiye Ankara, Turkey.
Tekin
A
A
Erdem
H
H
Yilmaz
E
E
Ayter
S
S
Coşkun
T
T
Can
A
A
Gögüş
S
S
Caglar
M
M
Kale
G
G
D000367:Age Factors; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis*; D017931:DNA Primers; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010179:Pancreas / Q000473:pathology; D016612:Paraffin Embedding; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D011897:Random Allocation; D012189:Retrospective Studies
C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA