Identification of two apolipoprotein variants, A‐I Karatsu (Tyr 100 → His) and A‐I Kurume (His 162 → Gin)
2008
We identified two apolipoprotein (apo) A-I variants, using isoelectric focusing gel electrophoresis : apo A-I Karatsu, which had a relative charge of +1 compared to normal apo A-I 4 , and apo A-I Kurume, which had a relative charge of -1. Direct sequence analysis of the PCR-amplified DNA from the proband of apo A-I Karatsu revealed a single substitution of tyrosine (TAC) for histidine (CAC) at position 100. Sequence analysis of apo A-I Kurume revealed a single substitution of histidine (CAT) for glutamine (CAG) at position 162. Probands of these two mutants and limited family study showed no accelerated atherosclerosis.
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