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Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.

Artikel i vetenskaplig tidskrift
Författare A L Børresen
Christina Hellerud
P Møller
O Søvik
K Berg
Publicerad i Clinical genetics
Volym 32
Nummer/häfte 4
Sidor 254-9
ISSN 0009-9163
Publiceringsår 1987
Publicerad vid Medicinska institutionen
Sidor 254-9
Språk en
Länkar www.ncbi.nlm.nih.gov/entrez/query.f...
Ämnesord Abortion, Induced, Adult, Amniocentesis, Chromosome Deletion, Female, Glycerol Kinase, deficiency, genetics, Humans, Phosphotransferases, deficiency, Polymorphism, Restriction Fragment Length, Pregnancy, Sex Chromosome Aberrations, genetics, X Chromosome, ultrastructure
Ämneskategorier Medicinsk genetik, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)

Sammanfattning

Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol-kinase (ATP:glycerol-3-phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X-chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenne locus.

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