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Titolo:
A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia
Autore:
Yamanouchi, Y; Takano, T; Hamaguchi, H; Tokunaga, K;
Indirizzi:
Teikyo Univ, Sch Med, Dept Hyg & Publ Hlth, Itabashi Ku, Tokyo 1738605, Japan Teikyo Univ Tokyo Japan 1738605 Hlth, Itabashi Ku, Tokyo 1738605, Japan Univ Tsukuba, Inst Basic Med Sci, Dept Med Genet, Tsukuba, Ibaraki 305, Japan Univ Tsukuba Tsukuba Ibaraki Japan 305 Genet, Tsukuba, Ibaraki 305, Japan Univ Tokyo, Sch Int Hlth, Dept Human Genet, Tokyo, Japan Univ Tokyo Tokyo Japan yo, Sch Int Hlth, Dept Human Genet, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 11, volume: 46, anno: 2001,
pagine: 633 - 639
SICI:
1434-5161(2001)46:11<633:ANAEVW>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECEPTOR-BINDING ACTIVITY; SPORADIC ALZHEIMERS-DISEASE; POLYMERASE CHAIN-REACTION; E ALLELE EPSILON-4; LATE-ONSET; POPULATION FREQUENCY; E GENE; HYPERLIPOPROTEINEMIA; POLYMORPHISM; SEQUENCE;
Keywords:
apolipoprotein E; apo E5; hyperlipidemia; insertion; tandem duplication; PCR-SSCP; two-dimensional gel electrophoresis; variant;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Takano, T Teikyo Univ, Sch Med, Dept Hyg & Publ Hlth, Itabashi Ku, 2-11-1 Kaga, Tokyo 1738605, Japan Teikyo Univ 2-11-1 Kaga Tokyo Japan 1738605 okyo 1738605, Japan
Citazione:
Y. Yamanouchi et al., "A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia", J HUM GENET, 46(11), 2001, pp. 633-639

Abstract

A tandem 24-bp insertion in the apolipoprotein E (apo E) gene was detectedin a patient with elevated triglyceride, apolipoprotein (apo) CII and apo CIII levels. This novel variant, apo E5ss, showed in position apo E5 by isoelectric focusing and was of larger molecular weight than apo E3 during two-dimensional gel electrophoresis. Polymerase chain reaction-single strand conformation polymorphism analysis using the primer pairs that cover all thecoding regions was useful for rapid detection of the variant of the apo E allele. Apo E5ss may have a 24-bp insertion caused by slipped mispairing, resulting in a tandem duplication of amino acid residues 135-142 [APOE, 24-BP INS, DUP CODONS 135-142]. The proband was the only person with apo E5ss among the 806 Japanese males that we examined. We inspected six other reported apo E5 variants in the literature.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/20 alle ore 13:10:41