Identification of two apolipoprotein variants, A-I Kaho (Asp 51-->Val) and A-I Lys 107 deletion.
We have identified two apolipoprotein (apo) A-I variants using isoelectric focusing gel electrophoresis: apo A-I Kaho which has a relative charge of +1 compared to normal apo A-I4, and apo A-I Nanakuma2 which has a relative charge of -1. Sequence analysis of PCR-amplified DNA from the proband of apo A-I Kaho revealed a single substitution of aspartic acid (GAC) for valine (GTC) at residue 51. Sequence analysis of PCR-amplified DNA from the proband of apo A-I Nanakuma2 revealed a three-base (AAG or AGA) deletion between bases 186 and 193 from the 5' end of exon 4 that leads to deletion of Lys 106 or 107. This mutation may be the same as that of apo A-I Marburg or A-I Munster-2 reported by Rall et al. (Rall SC Jr, Weisgraber KH, Mahley RW, Ogawa Y, Fielding CJ, Utermann G, Haas J, Steinmetz A, Menzel HJ, and Assmann G, J Biol Chem, 259: 10063-10070, 1984). Because of its unique sequence between 185 and 193 from the 5' end of exon 4 of apo A-I gene, we could not define whether AAG or AGA is deleted by DNA sequencing.
Moriyama
K
K
Department of Internal Medicine, Fukuoka University School of Medicine, Japan.
Sasaki
J
J
Matsunaga
A
A
Arakawa
K
K
D000328:Adult; D016632:Apolipoprotein A-I / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014633:Valine / Q000235:genetics
D016632:Apolipoprotein A-I; D001224:Aspartic Acid; D014633:Valine; D008239:Lysine