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Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100 → His) and A-I Kurume (His 162 → Gin)

1996; Wiley; Volume: 49; Issue: 2 Linguagem: Inglês

10.1111/j.1399-0004.1996.tb04332.x

1399-0004

Kengo Moriyama, Junichi Sasaki, Akira Matsunaga, Yoichi Takada, Masaaki Kagimoto, Kikuo Arakawa,

Diabetes Treatment and Management

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-I4, 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.