ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00711312
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