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.

Inflammatory bowel diseases, Linkage (Genetics)

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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.

Japan, Turkey, Standards, Methods, Cancer, Cancer genetics, Chromosome mapping, Genetic disorders, Experimental design, Research design, Medical statistics, Fanconi's anemia

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