Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
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.
Old
J M
JM
Briand
P L
PL
Purvis-Smith
S
S
Howard
N J
NJ
Wilcken
B
B
Hammond
J
J
Pearson
P
P
Cathelineau
L
L
Williamson
R
R
Davies
K E
KE
D000328:Adult; D000650:Amnion / Q000166:cytology; D002478:Cells, Cultured; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004247:DNA; D009954:Ornithine Carbamoyltransferase; D004262:DNA Restriction Enzymes