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Titolo:
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31
Autore:
Bartoloni, L; Horrigan, SK; Viles, KD; Gilchrist, JM; Stajich, JM; Vance, JM; Yamaoka, LH; Pericak-Vance, MA; Westbrook, CA; Speer, MC;
Indirizzi:
Univ Illinois, Hematol Oncol Sect, Dept Med, Chicago, IL 60607 USA Univ Illinois Chicago IL USA 60607 Sect, Dept Med, Chicago, IL 60607 USA Duke Univ, Med Ctr, Dept Med, Durham, NC 27706 USA Duke Univ Durham NC USA 27706 iv, Med Ctr, Dept Med, Durham, NC 27706 USA Rhode Isl Hosp, Dept Neurol, Providence, RI 02903 USA Rhode Isl Hosp Providence RI USA 02903 t Neurol, Providence, RI 02903 USA
Titolo Testata:
GENOMICS
fascicolo: 2, volume: 54, anno: 1998,
pagine: 250 - 255
SICI:
0888-7543(199812)54:2<250:UOACMB>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
SARCOGLYCAN COMPLEX; DELTA-SARCOGLYCAN; BETA-SARCOGLYCAN; MUTATIONS; LINKAGE; GENE; MAP; CHROMOSOME-13; HETEROGENEITY; PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Westbrook, CA Univago,inois, Hematol Oncol Sect, Dept Med, MC 734,900 S Ashland Ave, Chic Univ Illinois MC 734,900 S Ashland Ave Chicago IL USA 60607
Citazione:
L. Bartoloni et al., "Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31", GENOMICS, 54(2), 1998, pp. 250-255

Abstract

Limb-girdle muscular dystrophy type 1A (LGMD1A) is an autosomal dominant disease characterized by progressive weakness of the hip and shoulder girdle. The gene for LGMD1A had been localized to a 7-cM interval at 5q31 in a single large family (Family 39), To refine the localization of LGMD1A furtherand to aid in its identification, a high-resolution physical map of the locus was used to identify and provisionally localize 25 polymorphic markers. A subset of these markers was then ordered genetically, using a CEPH meiotic breakpoint panel, resulting in an integrated physical-genetic map of thelocus. Relevant markers were genotyped on the members of Family 39 who contained informative recombination events, resulting in a further narrowing of LGMD1A to an interval bounded by D5S479 and D5S594, estimated to be 2 Mb in size. Integration of the genetic and physical map permits the identification of several transcription units from within the narrowed LGMD1A interval, including one that is muscle specific, representing candidate genes for this familial dystrophy. (C) 1998 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 00:25:13