HOMOZYGOSITY MAPPING of the WERNER SYNDROME LOCUS (WRN)

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dc.contributor.authorNakura, J.
dc.contributor.authorWijsman, E. M.
dc.contributor.authorMiki, T.
dc.contributor.authorKamino, K.
dc.contributor.authorYu, C. E.
dc.contributor.authorOshima, J.
dc.contributor.authorFukuchi, K.
dc.contributor.authorWeber, J. L.
dc.contributor.authorPiussan, C.
dc.contributor.authorMelaragno, M. I.
dc.contributor.authorEpstein, C. J.
dc.contributor.authorScappaticci, S.
dc.contributor.authorFraccaro, M.
dc.contributor.authorFujiwara, Y.
dc.contributor.authorMatsumura, T.
dc.contributor.authorMurano, S.
dc.contributor.authorYoshida, S.
dc.contributor.authorSaida, T.
dc.contributor.authorOgihara, T.
dc.contributor.authorMartin, G. M.
dc.contributor.authorSchellenberg, G. D.
dc.contributor.institutionUNIV WASHINGTON
dc.contributor.institutionOSAKA UNIV
dc.contributor.institutionMARSHFIELD MED RES FDN
dc.contributor.institutionUNIV AMIENS
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUNIV CALIF SAN FRANCISCO
dc.contributor.institutionUNIV PAVIA
dc.contributor.institutionMEIJI CELL TECHNOL CTR
dc.contributor.institutionCHIBA UNIV
dc.contributor.institutionKOBE UNIV
dc.contributor.institutionSHINSHU UNIV
dc.date.accessioned2016-01-24T11:40:20Z
dc.date.available2016-01-24T11:40:20Z
dc.date.issued1994-10-01
dc.description.abstractWerner syndrome (WS) is an autosomal recessive disorder characterized by the early onset of several age-related diseases. the locus for this disease was recently mapped to 8p12. We studied 27 WS kindreds of mixed ethnic origins, 26 of which were consanguineous. in 24 of these families, the affected subject was given the diagnosis of ''definite'' WS and affected subjects in the remaining 3 pedigrees were given the diagnosis of ''probable'' WS. Affected subjects from each kindred were genotyped for 13 short tandem repeat polymorphic sites. Two-point linkage analysis yielded significant evidence for linkage to D8S137, D8S339, D8S87, FLAT, D8S165, and D8S166. the locus yielding a maximum lod score at the smallest recombination fraction was D8S339, suggesting that this marker is the closest to the WS gene (WRN locus) of those tested. D8S339 gave significant lod scores (Z(max) greater than or equal to 3.0) for both Japanese and non-Japanese (mostly Caucasian) families, demonstrating that a single locus is responsible for WS in both groups. Multipoint analysis of these markers yielded a maximum lod score of 17.05 at a distance of approximately 0.6 cM from D8S339. the combined evidence from a-point analysis, multipoint analysis, and analysis of regions of homozygosity in subjects from inbred pedigrees indicates that the WRN locus is between D8S131 and D8S87, in an 8.3-cM interval containing D8S339. (C) 1994 Academic Press, Inc.en
dc.description.affiliationUNIV WASHINGTON,DEPT MED,DIV NEUROL,SEATTLE,WA 98195
dc.description.affiliationOSAKA UNIV,SCH MED,DEPT GERIATR MED,OSAKA 553,JAPAN
dc.description.affiliationUNIV WASHINGTON,DIV MED GENET,SEATTLE,WA 98195
dc.description.affiliationUNIV WASHINGTON,DEPT BIOSTAT,SEATTLE,WA 98195
dc.description.affiliationUNIV WASHINGTON,DEPT PATHOL,SEATTLE,WA 98195
dc.description.affiliationMARSHFIELD MED RES FDN,MARSHFIELD,WI 54449
dc.description.affiliationUNIV AMIENS,F-80054 AMIENS,FRANCE
dc.description.affiliationESCOLA PAULISTA MED,DIV GENET,BR-04023 São Paulo,BRAZIL
dc.description.affiliationUNIV CALIF SAN FRANCISCO,SAN FRANCISCO,CA 94143
dc.description.affiliationUNIV PAVIA,I-27100 PAVIA 15,ITALY
dc.description.affiliationMEIJI CELL TECHNOL CTR,ODAWARA 250,KANAGAWA,JAPAN
dc.description.affiliationCHIBA UNIV,SCH MED,DEPT MED 2,CHIBA 280,JAPAN
dc.description.affiliationKOBE UNIV,KOBE 650,JAPAN
dc.description.affiliationSHINSHU UNIV,SCH MED,DEPT DERMATOL,MATSUMOTO,NAGANO 390,JAPAN
dc.description.affiliationUnifespESCOLA PAULISTA MED,DIV GENET,BR-04023 São Paulo,BRAZIL
dc.description.sourceWeb of Science
dc.format.extent600-608
dc.identifierhttp://dx.doi.org/10.1006/geno.1994.1548
dc.identifier.citationGenomics. San Diego: Academic Press Inc Jnl-comp Subscriptions, v. 23, n. 3, p. 600-608, 1994.
dc.identifier.doi10.1006/geno.1994.1548
dc.identifier.issn0888-7543
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/25434
dc.identifier.wosWOS:A1994PN75300012
dc.language.isoeng
dc.publisherAcademic Press Inc Jnl-comp Subscriptions
dc.relation.ispartofGenomics
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.titleHOMOZYGOSITY MAPPING of the WERNER SYNDROME LOCUS (WRN)en
dc.typeinfo:eu-repo/semantics/article
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