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Titolo:
Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA)gene
Autore:
Nakazawa, I; Nakajima, T; Ishigami, T; Umemura, S; Emi, M;
Indirizzi:
Nippon Med Sch, Inst Gerontol, Dept Mol Biol, Nakahara Ku, Kawasaki, Kanagawa 2118533, Japan Nippon Med Sch Kawasaki Kanagawa Japan 2118533 i, Kanagawa 2118533, Japan Yokohama City Univ, Dept Internal Med 2, Yokohama, Kanagawa 232, Japan Yokohama City Univ Yokohama Kanagawa Japan 232 ohama, Kanagawa 232, Japan Univ Tokyo, Inst Med Sci, Lab Genet Diag, Tokyo, Japan Univ Tokyo Tokyo Japan okyo, Inst Med Sci, Lab Genet Diag, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 7, volume: 46, anno: 2001,
pagine: 367 - 371
SICI:
1434-5161(2001)46:7<367:LDAHAA>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOCARDIAL-INFARCTION; GENOMIC STRUCTURE; REPEAT POLYMORPHISM; BREAST-CANCER; RISK; EXPRESSION; STROKE; LOCUS;
Keywords:
tissue type plasminogen activator (t-PA); linkage disequilibrium; single-nucleotide polymorphisms (SNPs); Alu I/D polymorphism; phylogenic tree;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Emi, M Nippon Med Sch, Inst Gerontol, Dept Mol Biol, Nakahara Ku, 1-396 Kosugi Cho, Kawasaki, Kanagawa 2118533, Japan Nippon Med Sch 1-396 Kosugi ChoKawasaki Kanagawa Japan 2118533 pan
Citazione:
I. Nakazawa et al., "Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA)gene", J HUM GENET, 46(7), 2001, pp. 367-371

Abstract

Tissue-type plasminogen activator (t-PA), a serine protease, activates theconversion of plasminogen to the fibrinolytic protein, plasmin. The t-PA gene, mapped to chromosome 8p12-p11.2, contains 14 exons. An Alu insertion/deletion (I/D) polymorphism in this gene has been associated with an increased risk for myocardial infarction. In the work reported here we sequenced 11 kilobases (kb) of genomic DNA from 50 normal Japanese volunteers (100 alleles), to include all 14 exons of the t-PA gene, flanking intronic sequences, and 6kb of the 5 ' sequence. These experiments identified eight novel single-nucleotide polymorphisms (SNPs), in addition to the known Alu I/D polymorphism, from which genotypic data we constructed 12 haplotypes in the tested population. Two-way comparisons of SNPs and the Alu polymorphism revealed strong linkage disequilibrium between the Alu site and SNPs at positions20,209 (chi (2) = 92.263) and 27,555 (chi (2) = 47.53), and between SNPs at positions 27,849 and 28,902 (chi (2) = 66.331). A phylogenic tree was constructed to infer a process of genome construction that would reflect the sequence variations we observed. Our results help to explain the lack of agreement among results of various disease-association studies in which a contribution of the human t-PA gene has been suspected but not always confirmed.

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Documento generato il 25/06/18 alle ore 17:16:39