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Titolo:
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3
Autore:
Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M;
Indirizzi:
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr Tel Hashomer Israel IL-52621 21 Tel Hashomer, Israel Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Tel Aviv Univ Tel Aviv Israel IL-69978 ac Med, IL-69978 Tel Aviv, Israel HaEmek Med Ctr, Dept Ophthalmol, Afula, Israel HaEmek Med Ctr Afula Israel mek Med Ctr, Dept Ophthalmol, Afula, Israel Natl Inst Arthrit & Musculoskeletal & Skin Dis, Arthrit & Rheumatism Branch, NIH, Bethesda, MD USA Natl Inst Arthrit & Musculoskeletal & Skin Dis Bethesda MD USA a, MD USA Sapir Med Ctr, Dept Ophthalmol, Kefar Sava, Israel Sapir Med Ctr Kefar Sava Israel tr, Dept Ophthalmol, Kefar Sava, Israel
Titolo Testata:
ISRAEL MEDICAL ASSOCIATION JOURNAL
fascicolo: 8, volume: 3, anno: 2001,
pagine: 559 - 562
SICI:
1565-1088(200108)3:8<559:AGCARC>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
DOMINANT CONGENITAL CATARACT; ALPHA-B-CRYSTALLIN; MISSENSE MUTATION; LINKAGE; CLEARER; LOCUS; CRYAA;
Keywords:
recessive; cataract; mapping; linkage; single nucleotide polymorphism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Pras, E Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr Tel Hashomer Israel IL-52621 ashomer, Israel
Citazione:
E. Pras et al., "A gene causing autosomal recessive cataract maps to the short arm of chromosome 3", ISR MED ASS, 3(8), 2001, pp. 559-562

Abstract

Background: Fourteen loci have been associated with autosomal dominant cataract, but only one with the recessive form of the disease. Objectives: To find the chromosomal location of a gene causing autosomal recessive cataract in three inbred Arab families. Methods: A single nucleotide polymorphism-based genome-wide search, with the Effymetrix GeneChip HuSNP genotyping array, was performed on a pooled DNA sample from six affected family members in a search for regions showing homozygosity. Using conventional microsatellite markers, regions of homozygosity were further analyzed in all the families. Results: A region on chromosome 3p spanning 43 megabases showed homozygosity with 13 consecutive SNPs. Three microsatellite markers from this region yielded lod scores >3.00. A maximal two-point lod of 4.83 was obtained withthe marker D3S1298 at 0=0.004. Haplotype analysis placed the disease gene in a 20 Mb interval between D3S1768 and D3S2409. Conclusions: A gene causing autosomal recessive cataract maps to the shortarm of chromosome 3.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 02:27:37