Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan syndrome
Autore:
Judge, DP; Biery, NJ; Dietz, HC;
Indirizzi:
Johns Hopkins Hosp, Inst Med Genet, Baltimore, MD 21205 USA Johns Hopkins Hosp Baltimore MD USA 21205 Genet, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 pt Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 d Inst, Baltimore, MD 21205 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 99, anno: 2001,
pagine: 39 - 47
SICI:
0148-7299(20010215)99:1<39:COMMFF>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENOMIC ORGANIZATION; FIBRILLIN GENES; SYNDROME LOCUS; MUTATIONS; CHROMOSOME-15; LINKAGE; HETEROGENEITY; EXPRESSION; CALCIUM;
Keywords:
marfan syndrome; haplotype segregation analysis; molecular diagnosis; FBN1 gene; fibrillin-1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Dietz, HC Johns Hopkins Hosp, Inst Med Genet, Ross Bldg 858,1720 Rutland Ave, Baltimore, MD 21205 USA Johns Hopkins Hosp Ross Bldg 858,1720 Rutland Ave Baltimore MD USA 21205
Citazione:
D.P. Judge et al., "Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan syndrome", AM J MED G, 99(1), 2001, pp. 39-47

Abstract

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue with marked interfamilial and intrafamilial variation in phenotype. The primary defect in affected patients resides in the gene for fibrillin-1 (FBN1) on 15q21. Linkage analysis has shown no locus heterogeneity in the classic phenotype, although substantial allelic heterogeneity exists. Recently it has been shown that the size of the gene is approximately 200 kb. These and other factors have precluded routine mutation screening for presymptomatic and prenatal diagnosis. Previously we described four intragenic microsatellite polymorphisms that can be used for haplotype segregation analysis. The utility of this approach is limited because the markers do not fully span the gene and show incomplete informativeness, with 16% homozygosity for the most common haplotype. We have now identified and localized highly polymorphic microsatellite markers that fall within 1 Mb of FBN1. Complete haplotype heterozygosity was observed in a population of 50 unrelated control individuals when the flanking markers and existing intragenic polymorphisms were used in combination. We demonstrate the utility of haplotype segregation analysis in the presymptomatic diagnosis and counseling of families showing atypical or equivocal manifestations of MFS. (C) 2001Wiley-Liss,Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 13:39:14