A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort
Article Abstract:
To add to understanding of the genetic risk profile for inflammatory bowel disease (IBD) a 9-cM total-genome search was made for susceptibility loci in 268 families with 353 affected sibling pairs. Linkages on chromosomes 12 and 16 were found again and the chromosome-4 linkage was extended. It appears autosomal linkages on chromosomes 22, 10, 6 and 1 may exist. The maximum LOD score on the X chromosome was 1.76 for ulcerative colitis (UC), consistent with clinical association of Ullrich-Turner syndrome and IBD. IBD is characterized by chronic relapsing intestinal inflammation which usually starts in early adulthood. Two subtypes exist, Crohn's disease and UC.
author: Buckler, Alan, Curran, Mark E., Deventer, Sander J.H. van, Schreiber, Stefan, Cardon, Lon R., Nurnberg, Peter, Lennard-Jones, John E., Hampe, Jochen, Shaw, Sarah H., Lau, Kit F., Bridger, Stephen, Macpherson, Andrew J.S., Sakul, Hakan, Harris, Timothy J.R., Hall, Jeff, Stokkers, Pieter, Mirza, Mudassar M., Lee, John C.W., Mathew, Chris G.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Inflammatory bowel diseases, Linkage (Genetics)
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
Article Abstract:
The Fanconi anemia (FA) group E gene has been mapped to chromosome 6p. FA is a genetically heterogeneous autosomal recessive disease with various features and FANCE is the Group E gene. The cells of FA patients are hypersensitive to DNA cross-linking agents in chromosomal breakage and cell survival. Genetic analysis and homozygosity mapping using DNA from three families have been used to map a fifth distinct genetic FA locus. Data from a small group of families can be used to successfully map a gene for a genetically heterogeneous disorder. FANCD had been localized already to chromosome 3p22-26.
author: Joenje, Hans, Arwert, Fre, Morgan, Neil V., Mathew, Christopher G., Digweed, Martin, Reis, Andre, Leegwater, Peter A., Saar, Kathrin, Waisfisz, Quinten, Altay, Cigdem, Winter, Johan P. de, Komatsu, Kenshi, Evans, Gareth R., Wegner, Rolf-Dieter, Pronk, Jan C.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Japan, Turkey, Standards, Methods, Cancer, Cancer genetics, Genetic disorders, Experimental design, Research design, Medical statistics, Fanconi's anemia
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Article Abstract:
Pitt-Hopkins syndrome is a distinct but heterogeneous entity caused by autosomal dominant de novo mutations in TCF4. Syndrome evolves as an important differential diagnosis to Angelman and Rett syndromes because of its phenotypic overlap.
author: Reardon, William, Devriendt, Koen, Cohen, Monika, Hennekam, Raoul C.M., Bottani, Armand, Zweier, Christiane, Rauch, Anita, Nurnberg, Peter, Reis, Andre, Peippo, Maaarit M., Hoyer, Juliane, Sousa, Sergio, Clayton-Smith, Jill, Saraiva, Jorge, Cabral, Alexandra, Gohring, Ina, de Ravel, Thomy, Bijlsma, Emilia K., Orrico, Alfredo, Dreweke, Alexander
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Science & research, Analysis, Diagnosis, Mental retardation, Rett syndrome
subjects list: United Kingdom, Research, United States, Netherlands, Germany, Genetic aspects, Chromosome mapping
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