Reference:
NGFN2
Abstract:
Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the same chromosome region. A pilot study in the Berlin area revealed several probands fulfilling these criteria (Tab. 1). One example is a patient with psoriasis and a breakpoint in 4q31 within a major locus for psoriasis as determined by a recent meta-analysis of linkage data. In this case, a plausible functional candidate gene for psoriasis has been shown to be affected by the translocation. We also investigate patients with amyotrophic lateral sclerosis carrying constitutional balanced chromosome rearrangements (6;7). Likewise, chromosomal breakpoints of two individuals with dyslexia, both carrying familial balanced chromosomal rearrangements that co-segregate with the disorder, are currently under study. Chromosomal breakpoints of a familial balanced translocation that co-segregates with malignancies of the lymphatic system involving chromosomes 1 and 13 are also being examined.
PROJECT DETAILS
beginning: 2005.
end: 2008.
Country of research: Germany
Counry of funding source: Germany
Funding organization: German Federal Ministry of Education and Research
Financing: NATIONAL FUNDINGS – 0 €