Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency

Ichiro Matsuda, Akira Hata, Toshinobu Matsuura, Teruhisa Tsuzuki, Kazunori Shimada

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

Complementary and genomic DNA clones corresponding to human ornithine transcarbamylase (OTC) have been isolated and analyzed. Restriction fragment length polymorphisms (RFCPs) on OTC gene locus were analyzed in Japanese female population. Based on these data, a prenatal diagnosis of OTC deficiency was carried out in a risk family. A C-to-T substitution was found in exon 5 of OTC gene is an another femal patient.

Original languageEnglish
Pages (from-to)283-289
Number of pages7
JournalClinica Chimica Acta
Volume185
Issue number3
DOIs
Publication statusPublished - Dec 15 1989

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency'. Together they form a unique fingerprint.

Cite this