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Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers
Author(s) -
Summar M. L.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005349306311
Subject(s) - biology , atp synthase , carbamoyl phosphate synthetase , enzyme , gene , genetics , mutation , microbiology and biotechnology , biochemistry
Deficiency of the hepatic enzyme carbamoyl‐phosphate synthase I (CPSI), results in lethal or near‐lethal hyperammonaemia. As part of our work on CPSI deficiency we have explored the development of markers for prenatal diagnosis, and the determination of molecular defects resulting in CPSI deficiency. We have determined a set of highly informative microsatellite markers flanking the CPSI gene. We have found 14 mutations in individuals with CPSI deficiency. During our mutation studies, we have made extensive use of cell lines not normally expressing CPSI through amplification of ‘illegitimate’ transcripts. We summarize these findings and review our current understanding of this important enzyme.