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. A recent 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 panel of markers at 8q21. In this article, we report linkage of NBS to 8q21 in 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...Continue Reading
References
Jul 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·L ZhangN Arnheim
Mar 1, 1989·American Journal of Medical Genetics·R D TaalmanJ M Scheres
Feb 1, 1983·Mutation Research·R D TaalmanT W Hustinx
Apr 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·N G Jaspers, D Bootsma
Jul 1, 1981·Acta paediatrica Scandinavica·C M WeemaesR D Taalman
Nov 1, 1995·Archives of Disease in Childhood·A J GreenN D Barnes
Mar 14, 1996·Nature·C DibJ Weissenbach
Oct 2, 1996·American Journal of Medical Genetics·V M Der KaloustianP Eydoux
Jan 1, 1997·Clinical Immunology and Immunopathology·K E SullivanS P Lees-Miller
Jun 1, 1997·American Journal of Human Genetics·S MatsuuraK Komatsu
Sep 1, 1997·Molecular and Cellular Biology·W JongmansJ Hall
Citations
Jul 9, 1999·Genes, Chromosomes & Cancer·F CarlomagnoB A Ponder
Sep 28, 2002·Genes, Chromosomes & Cancer·Karen M CerosalettiPatrick Concannon
Sep 28, 2007·Breast Cancer Research and Treatment·Krzysztof RoznowskiJerzy Nowak
Jul 19, 2002·Clinical Genetics·Mustafa TekinN Akar
Mar 7, 2003·Journal of Pediatric Hematology/oncology·Sameer BakhshiKanta Bhambhani
Mar 21, 2012·European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)·Jie JiaoYawei Zhang
Jul 5, 2001·Molecular and Cellular Biology·G BuscemiD Delia
Mar 10, 2001·Molecular and Cellular Biology·A Desai-MehtaP Concannon
Jan 15, 2003·Journal of Medical Genetics·M D Tischkowitz, S V Hodgson
Dec 16, 2006·Leukemia & Lymphoma·Sara RollinsonGareth J Morgan
Jan 19, 2008·Leukemia & Lymphoma·Gabrielle SellickRichard Houlston
Jul 21, 2009·International Journal of Radiation Oncology, Biology, Physics·Julianne M Pollard, Richard A Gatti
Mar 31, 2007·European Journal of Medical Genetics·F BerardinelliA Antoccia
Apr 19, 2003·Clinical Genetics·P MaraschioC Danesino
Jul 29, 2004·DNA Repair·Helen H Chun, Richard A Gatti
May 8, 2015·BMC Medical Genetics·Isabelle ThiffaultNicole P Safina
Sep 6, 2011·Leukemia Research·Agata PastorczakWojciech Młynarski
Jan 10, 2002·Molecular Cell·M O'DriscollP Concannon
Feb 6, 1999·Genomics·H TauchiY Nakamura
Sep 7, 2000·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·S D SpaceyG Bebb
Oct 30, 2003·Cancer·Henry T LynchZoran Gatalica
Oct 28, 2016·Balkan Journal of Medical Genetics : BJMG·S A KochevaA J Dimovski
Jul 2, 2003·American Journal of Medical Genetics. Part a·Igor B ResnickAlexander G Roumiantsev
Jun 14, 2006·International Journal of Cancer. Journal International Du Cancer·Jan SteffenZygmut Paszko
Aug 10, 2005·American Journal of Medical Genetics. Part a·Tawfeg I Ben-OmranMarjan M Nezarati
Apr 24, 2003·European Journal of Human Genetics : EJHG·Caterina TanzanellaPaola Maraschio
Dec 17, 2002·Oncogene·Hiroshi TauchiKenshi Komatsu
Jul 23, 2020·Frontiers in Immunology·Barbara PiatosaHanna Gregorek
Jun 6, 2000·Journal of Radiation Research·H Tauchi
Apr 1, 2000·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·M PaulliA Marchi
Jun 5, 2001·Journal of Medical Genetics·J A HielP Concannon