Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease
Autore:
Gazda, H; Lipton, JM; Willig, TN; Ball, S; Niemeyer, CM; Tchernia, G; Mohandas, N; Daly, MJ; Ploszynska, A; Orfali, KA; Vlachos, A; Glader, BE; Rokicka-Milewska, R; Ohara, A; Baker, D; Pospisilova, D; Webber, A; Viskochil, DH; Nathan, DG; Beggs, AH; Sieff, CA;
Indirizzi:
Dana Farber Canc Inst, Div Pediat Hematol & Oncol, Boston, MA 02115 USA Dana Farber Canc Inst Boston MA USA 02115 l & Oncol, Boston, MA 02115 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 Hosp, Div Genet, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 h Med, Dept Pediat, Boston, MA 02115 USA Mt Sinai Sch Med, Div Pediat Hematol Oncol, New York, NY USA Mt Sinai Sch Med New York NY USA Pediat Hematol Oncol, New York, NY USA Hop Bicetre, Assitance Publ Hop Paris, Dept Hematol, Paris, France Hop Bicetre Paris France ce Publ Hop Paris, Dept Hematol, Paris, France Fac Med, Paris, France Fac Med Paris FranceFac Med, Paris, France Univ Calif Berkeley, Lawrence Berkeley Lab, Berkeley, CA 94720 USA Univ Calif Berkeley Berkeley CA USA 94720 ley Lab, Berkeley, CA 94720 USA Univ London St Georges Hosp, Sch Med, Dept Haematol, London SW17 0RE, England Univ London St Georges Hosp London England SW17 0RE on SW17 0RE, England Univ Freiburg, Childrens Hosp, D-7800 Freiburg, Germany Univ Freiburg Freiburg Germany D-7800 ens Hosp, D-7800 Freiburg, Germany MIT, Whitehead Inst Biomed Res, Cambridge, MA 02139 USA MIT Cambridge MA USA 02139 ehead Inst Biomed Res, Cambridge, MA 02139 USA Univ Gdansk, Dept Pediat Hematol & Oncol, PL-80952 Gdansk, Poland Univ Gdansk Gdansk Poland PL-80952 atol & Oncol, PL-80952 Gdansk, Poland Stanford Univ, Sch Med, Div Pediat Hematol Oncol, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 Hematol Oncol, Stanford, CA 94305 USA Warsaw Sch Med, Dept Pediat Hematol Oncol, Warsaw, Poland Warsaw Sch Med Warsaw Poland Dept Pediat Hematol Oncol, Warsaw, Poland Toho Univ, Sch Med, Dept Pediat, Tokyo, Japan Toho Univ Tokyo JapanToho Univ, Sch Med, Dept Pediat, Tokyo, Japan Princess Margaret Hosp Children, Dept Pediat Haematol Oncol, Perth, WA, Australia Princess Margaret Hosp Children Perth WA Australia Perth, WA, Australia Univ Hosp, Dept Pediat, Olomouc, Czech Republic Univ Hosp Olomouc Czech Republic , Dept Pediat, Olomouc, Czech Republic Univ Utah, Sch Med, Div Med Genet, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA d, Div Med Genet, Salt Lake City, UT USA
Titolo Testata:
BLOOD
fascicolo: 7, volume: 97, anno: 2001,
pagine: 2145 - 2150
SICI:
0006-4971(20010401)97:7<2145:EFLOFD>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
RIBOSOMAL-PROTEIN S19; HEART TUBE FORMATION; TRANSCRIPTION FACTOR; VENTRAL MORPHOGENESIS; HUMAN GENOME; GENE; 19Q13; IDENTIFICATION; MUTATIONS; ENDODERM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Gazda, H Dana Farber Canc Inst, Div Pediat Hematol & Oncol, Rm M615,44 Binney St, Boston, MA 02115 USA Dana Farber Canc Inst Rm M615,44 Binney St Boston MA USA 02115 SA
Citazione:
H. Gazda et al., "Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease", BLOOD, 97(7), 2001, pp. 2145-2150

Abstract

Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia thatusually presents early in infancy and is inherited in 10% to 20% of cases. Linkage analysis has shown that DBA in many of both dominant and recessiveDBA families mapped to chromosome 19q13.2 leading to the cloning of a geneon chromosome 19q13.2 that encodes a ribosomal protein, RPS19. However, subsequently, mutations of the RPS19 gene have only been identified in 25% ofall patients with DBA. This study analyzed 14 multiplex DBA families, 9 ofwhich had 19q13.2 haplotypes inconsistent with 19q linkage. A genome-wide search for linked loci suggested the presence of a second DBA locus in a 26.4-centimorgan (cM) interval on human chromosome 8p. Subsequently, 24 additional DBA families were ascertained and all 38 families were analyzed with additional polymorphic markers on chromosome 8p. In total, 18 of 38 families were consistent with linkage to chromosome 8p with a maximal LOD score with heterogeneity of 3.55 at D8S277 assuming 90% penetrance. The results indicate the existence of a second DBA gene in the 26.4-cM telomeric region ofhuman chromosome 8p23.3-p22, most likely within an 8.1-cM interval flankedby D8S518 and D8S1825. Seven families were inconsistent with linkage to 8por 19q and did not reveal mutations in the RPS19 gene, suggesting further genetic heterogeneity. (Blood. 2001;97:2145-2150) (C) 2001 by The American Society of Hematology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 20:00:24