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Titolo:
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene
Autore:
Hirayama, T; Yamaki, E; Hata, A; Tsuji, M; Hashimoto, K; Yamamoto, M; Emi, M;
Indirizzi:
Nipponwaed Sch, Inst Gerontol, Dept Biol Mol, Nakahara Ku, Kawasaki, Kanaga Nippon Med Sch Kawasaki Kanagawa Japan 2118533 ahara Ku, Kawasaki, Kanaga Nippon Med Sch, Dept Pediat, Kawasaki, Kanagawa, Japan Nippon Med Sch Kawasaki Kanagawa Japan Pediat, Kawasaki, Kanagawa, Japan Hokkaido Univ, Dept Publ Hlth, Sapporo, Hokkaido 060, Japan Hokkaido UnivSapporo Hokkaido Japan 060 th, Sapporo, Hokkaido 060, Japan Hokkaido Cent Hosp Social Hlth Insurance, Sapporo, Hokkaido, Japan Hokkaido Cent Hosp Social Hlth Insurance Sapporo Hokkaido Japan o, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 43, anno: 1998,
pagine: 250 - 254
SICI:
1434-5161(1998)43:4<250:FFHKIJ>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
POPULATION;
Keywords:
hyperlipoproteinemia; lipoproteins; LDL receptor; familial hypercholesterolemia; genetic diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Emi, M Nippon,Med Sch, Inst Gerontol, Dept Biol Mol, Nakahara Ku, 1-396 Kosugi Cho Nippon Med Sch 1-396 Kosugi Cho Kawasaki Kanagawa Japan 2118533 Cho
Citazione:
T. Hirayama et al., "Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene", J HUM GENET, 43(4), 1998, pp. 250-254

Abstract

In the course of investigations of familial coronary artery disease in Hokkaido, the northern island of Japan, we identified five families in which multiple members showed elevated plasma levels of low-density lipoprotein (LDL) cholesterol. To determine the genetic etiology of their lipoprotein abnormalities, we screened DNA samples from these families for mutations in all 18 exons and the exon-intron boundaries of the LDL receptor (LDLR) gene. Novel point mutations were identified in each family: (1) a C-to-A transversion at nucleotide 285, causing a nonsense mutation at codon 74, in eight members of family A; (2) a G-to-A transition at nucleotide 1136, causing substitution of Tyr for Cys at codon 358, in six members of family B; (3) a C-to-T transition at nucleotide 1822, causing substitution of Ser for Pro at codon 587, in five members of family C; (4) a one-base insertion of G to a five-G stretch at nucleotides 1774-1778 (codons 571-572), causing a frameshift, in six members of family D; and (5) a one-base deletion of T at nucleotide 1963-1964 (codon 634), causing a frameshift, in three members of family E. Through the molecular genetic approach a total of 28 individuals in these families were diagnosed unequivocally as heterozygous for the respective LDLR mutations. This method also helped us to diagnose familial hypercholesterolemia, or to exclude from carrier status, 11 children with borderlinehigh cholesterol levels.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:38:03