Fig. 1.

Identification of the maternal mutation (heterozygote type) in exon 9 of the OTC gene. After digesting the PCR product with BclI, the 319 or 218 bp PCR products of the affected mother were digested into 223 and 96 bp (lane 1) and 178 and 40 bp products (lane 4), respectively. The 40 bp product was hardly seen on an agarose gel. Lane 1 and 4; the first and nested PCR products of the affected mother, respectively, lane 2 and 3; BclI-digested products from the first PCR products of the father. M: molecular weight marker.