Summary
We examined the DNA in two families with ornithine transcarbamoylase (OTC) deficiency. Two point mutations of the OTC gene, a C-to-T (codon 141) and a G-to-A (codon 141), were identified. This allowed prenatal monitoring to be made for two fetuses in each family, using polymerase chain reaction (PCR), followed by allele-specific oligonucleotide hybridization orTaqI digestion of amplified sequence. The diagnoses showed heterozygotes of a wild type gene and the corresponding mutant gene in these fetuses; each was confirmed postnatally.
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Matsuura, T., Hoshide, R., Fukushima, M. et al. Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis. J Inherit Metab Dis 16, 31–38 (1993). https://doi.org/10.1007/BF00711312
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DOI: https://doi.org/10.1007/BF00711312