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A 52-year-old Japanese woman was evaluated for severe hypertriglyceridemia and recurrent acute pancreatitis. This hypertriglyceridemia was found to be due to the absence of serum apolipoprotein C-II (apo C-II) which was identified by Western blotting using polyclonal anti-apo C-II antiserum. DNA sequence analysis of the apo C-II gene from the patient revealed a homozygous nucleotide change: a thymidine (T) to cytosine (C) substitution in codon 26 (TGG->CGG) at the third exon of the apo C-II gene, that resulted in a Trp 26 to Arg substitution. The mutation was also confirmed by restriction fragment length polymorphism (RFLP) analysis with the restriction enzyme Hpa II. The same mutation has been found in a case previously reported in Japan, and was named apo C-II Wakayama. However, the case in Wakayama prefecture showed two concomitant point mutations at the 5'-flanking region upstream from the first exon, which were not identified in our case by RFLP analysis with the restriction enzyme BstXI. Considering that the prefectures of these two cases, Nara and Wakayama, are next to each other, the mutation in our case may be a genetic forebear of apo C-II Wakayama. However, no familial relationship between the two cases has been documented.

Using newly-designed primers for semi-nested reverse transcriptase-polymerase chain reaction to detect 5′-untranslated region of HGV GB-C hepatitis virus RNA, we screened 45 patients and found three HGV GB-C positive patients (with fulminant hepatitis and liver cirrhosis, and on hemodialysis). Restriction fragment length polymorphism and single-strand conformation polymorphism analysis revealed a similar pattern in all positive specimens. The sequence amplified by our primers might be a highly conserved sequence. We believe our primers are useful for screening of HGV GB-C virus RNA.