HOMOZYGOSITY MAPPING of the WERNER SYNDROME LOCUS (WRN)

HOMOZYGOSITY MAPPING of the WERNER SYNDROME LOCUS (WRN)

Autor Nakura, J. Google Scholar
Wijsman, E. M. Google Scholar
Miki, T. Google Scholar
Kamino, K. Google Scholar
Yu, C. E. Google Scholar
Oshima, J. Google Scholar
Fukuchi, K. Google Scholar
Weber, J. L. Google Scholar
Piussan, C. Google Scholar
Melaragno, M. I. Google Scholar
Epstein, C. J. Google Scholar
Scappaticci, S. Google Scholar
Fraccaro, M. Google Scholar
Fujiwara, Y. Google Scholar
Matsumura, T. Google Scholar
Murano, S. Google Scholar
Yoshida, S. Google Scholar
Saida, T. Google Scholar
Ogihara, T. Google Scholar
Martin, G. M. Google Scholar
Schellenberg, G. D. Google Scholar
Instituição UNIV WASHINGTON
OSAKA UNIV
MARSHFIELD MED RES FDN
UNIV AMIENS
Universidade Federal de São Paulo (UNIFESP)
UNIV CALIF SAN FRANCISCO
UNIV PAVIA
MEIJI CELL TECHNOL CTR
CHIBA UNIV
KOBE UNIV
SHINSHU UNIV
Resumo Werner 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.
Idioma Inglês
Data de publicação 1994-10-01
Publicado em Genomics. San Diego: Academic Press Inc Jnl-comp Subscriptions, v. 23, n. 3, p. 600-608, 1994.
ISSN 0888-7543 (Sherpa/Romeo, fator de impacto)
Publicador Academic Press Inc Jnl-comp Subscriptions
Extensão 600-608
Fonte http://dx.doi.org/10.1006/geno.1994.1548
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:A1994PN75300012
Endereço permanente http://repositorio.unifesp.br/handle/11600/25434

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