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PMID: 2857026 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

Lancet (London, England) ·Vol. 1 ·No. 8420 ·1985-01-12 ·Pages 73-5

Old JM, Briand PL, Purvis-Smith S, Howard NJ, Wilcken B, Hammond J, Pearson P, Cathelineau L, Williamson R, Davies KE

Abstract

Direct gene analysis was used in the prenatal exclusion of ornithine transcarbamylase (OTC) deficiency; karyotyping the family's previously affected child had already identified the defect as a small deletion. A cloned OTC gene and two other X chromosome-specific probes were mixed, and hybridised to fetal DNA obtained from cultured amniocytes; the fetus was shown to be a normal male.

MeSH Terms

Adult Amnion/cytology Cells, Cultured DNA/genetics DNA Restriction Enzymes Female Humans Karyotyping Male Nucleic Acid Hybridization Ornithine Carbamoyltransferase/genetics Ornithine Carbamoyltransferase Deficiency Disease Pedigree Pregnancy Prenatal Diagnosis

Chemicals

DNA Ornithine Carbamoyltransferase DNA Restriction Enzymes

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Old J M

Briand P L

Purvis-Smith S

Howard N J

Wilcken B

Hammond J

Pearson P

Cathelineau L

Williamson R

Davies K E

Article Info

Journal

Lancet (London, England)

Abbr.

Lancet

ISSN

0140-6736

DOI

10.1016/s0140-6736(85)91966-x

Published

1985-01-12

Pages

73-5

Language

English

Region

England

NLM ID

2985213R

Subset

External Links

PubMed source DOI: 10.1016/s0140-6736(85)91966-x View journal details

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Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

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