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Titolo:
FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE
Autore:
CEROSALETTI KM; LANGE E; STRINGHAM HM; WEEMAES CMR; SMEETS D; SOLDER B; BELOHRADSKY BH; TAYLOR AMR; KARNES P; ELLIOTT A; KOMATSU K; GATTI RA; BOEHNKE M; CONCANNON P;
Indirizzi:
UNIV WASHINGTON,SCH MED,VIRGINIA MASON RES CTR,1000 SENECA ST SEATTLEWA 98101 UNIV WASHINGTON,SCH MED,VIRGINIA MASON RES CTR SEATTLE WA 98101 UNIV WASHINGTON,SCH MED,DEPT IMMUNOL SEATTLE WA 98101 UNIV MICHIGAN,SCH PUBL HLTH,DEPT BIOSTAT ANN ARBOR MI 48109 UNIV NIJMEGEN HOSP NL-6500 HB NIJMEGEN NETHERLANDS UNIV MUNICH,DR VON HAUNERSCHEN KINDERSPITAL,IMMUNDEFEKT AMBULANZDER KINDERKLIN D-80337 MUNICH GERMANY UNIV BIRMINGHAM,SCH MED BIRMINGHAM B15 2TT W MIDLANDS ENGLAND MAYO CLIN ROCHESTER MN 00000 MONTREAL CHILDRENS HOSP MONTREAL PQ H3H 1P3 CANADA MCGILL UNIV MONTREAL PQ CANADA HIROSHIMA UNIV,RES INST RADIAT BIOL & MED HIROSHIMA JAPAN UNIV CALIF LOS ANGELES,SCH MED LOS ANGELES CA 00000
Titolo Testata:
American journal of human genetics
fascicolo: 1, volume: 63, anno: 1998,
pagine: 125 - 134
SICI:
0002-9297(1998)63:1<125:FLOTNB>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-TELANGIECTASIA; IMMUNODEFICIENCY; COMPLEMENTATION; RADIATION; VARIANT; CELL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
K.M. Cerosaletti et al., "FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE", American journal of human genetics, 63(1), 1998, pp. 125-134

Abstract

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, a birdlike face, growth retardation,immunodeficiency, lack of secondary sex characteristics in females, and increased incidence of lymphoid cancers. NBS cells display a phenotype similar to that of cells from ataxia-telangiectasia patients, including chromosomal instability, radiation sensitivity, and aberrant cell-cycle-checkpoint control following exposure to ionizing radiation. Arecent study reported genetic linkage of NBS to human chromosome 8q21, with strong linkage disequilibrium detected at marker D8S1811 in eastern European NBS families. We collected a geographically diverse group of NBS families and tested them for linkage, using an expanded panelof markers at 8q21. In this article, we report linkage of NBS to 8q21in 6/7 of these families, with a maximum LOD score of 3.58. Significant linkage disequilibrium was detected for 8/13 markers tested in the 8q21 region, including D8S1811, In order to further localize the gene for NBS, we generated a radiation-hybrid map of markers at 8q21 and constructed haplotypes based on this map. Examination of disease haplotypes segregating in 11 NBS pedigrees revealed recombination events thatplace the NBS gene between D8S1757 and D8S270. A common founder haplotype was present on 15/18 disease chromosomes from 9/11 NBS families. Inferred (ancestral) recombination events involving this common haplotype suggest that NBS can be localized further, to an interval flanked by markers D8S273 and D8S88.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 18:12:42