Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

American Journal of Human Genetics
Karen CerosalettiPatrick Concannon

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

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Citations

Sep 28, 2002·Genes, Chromosomes & Cancer·Karen M CerosalettiPatrick Concannon
Sep 28, 2007·Breast Cancer Research and Treatment·Krzysztof RoznowskiJerzy Nowak
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
Jul 21, 2009·International Journal of Radiation Oncology, Biology, Physics·Julianne M Pollard, Richard A Gatti
Apr 19, 2003·Clinical Genetics·P MaraschioC Danesino
Jul 29, 2004·DNA Repair·Helen H Chun, Richard A Gatti
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
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
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

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