Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.

摘要: Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia, an autosomal recessive inherited defect the urea cycle. Most patients described so far have presented with classical form disease. There are also a mild citrullinemia in whom exact molecular basis and clinical relevance uncertain. Mutations human ASS gene not yet been mildly affected or asymptomatic citrullinemia. The genomic sequence is precisely known making mutation analysis difficult. Here, entire DNA mutations disease described. c.1168G→A (G390R) IVS13+5 G→A novel c.323G→T (R108L) found to be associated whereas c.535T→G (W179R), c.1085G→T (G362V) detected on alleles patients. Thus, children biochemical abnormalities some cases enzymatically proven allowed us classify these as ASS-deficient elucidation structure has made possible use intronic primers for form, provides another option prenatal diagnostics families severe type.