ISSN:
1435-232X
Schlagwort(e):
Key words Peroxisomes
;
d-3-Hydroxyacyl-CoA dehydra-tase/d-3-hydroxyacyl-CoA dehydrogenase bifunctional pro-tein deficiency
;
Prenatal diagnosis
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
Abstract The prenatal diagnosis of peroxisomal d-3-hydroxyacyl-coenzyme A (CoA) dehydratase/ d-3-hydro-xyacyl-CoA dehydrogenase bifunctional protein (d-BP) deficiency was performed by peroxisomal β-oxidation assay, indirect immunofluorescence staining, immunoblot analysis, and gene analysis of cultured amniocytes obtained from a fetus at 16 weeks' gestational age. β-Oxidation activity, measured by [1-14C] lignoceric acid oxidation, was markedly decreased compared with the controls. Large peroxisomes were readily identified by immunofluorescence staining with anti-human catalase, as was found in the reported patients. Immunoreactive d-BP material was absent on immunoblot analysis and immunofluorescence staining with anti-human d-BP. Reverse transcriptase polymerase chain reaction (RT-PCR) analysis revealed the presence of the same 237-bp deletion in the cDNA as that detected in a sibling (the proband). The autopsied fetus showed the characteristic facial appearance and d-BP was deficient on immunoblot and immunohistopathological studies of the fetal tissues. No neuronal migration disorder was identified. This seems to be the first prenatal diagnosis of d-BP deficiency.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s100380050131
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