Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases
Research output: Contribution to journal › Journal article › Research › peer-review
Balanced reciprocal translocations associated with genetic disorders have facilitated the identification of a variety of genes for early-onset monogenic disorders, but only rarely the genes associated with common and complex disorders. To assess the potential of chromosomal breakpoints associated with common/ complex disorders, we investigated the full spectrum of diseases in 731 carriers of balanced reciprocal translocations without known early-onset disorders in a nation-wide questionnaire-based re-examination. In 42 families, one of the breakpoints at the cytogenetic level concurred with known linkage data and/or the translocation co-segregated with the reported phenotype, for example, we found a significant linkage (lod score=2.1) of dyslexia and a co-segregating translocation with a breakpoint in a previously confirmed locus for dyslexia. Furthermore, we identified 441 instances of at least two unrelated carriers with concordant breakpoints and traits. If applied to other populations, re-examination of translocation carriers may identify additional genotype-phenotype associations, some of which may be novel and others that may coincide with and provide additional support of data presented here.
Original language | English |
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Journal | European Journal of Human Genetics |
Volume | 14 |
Issue number | 4 |
Pages (from-to) | 410-7 |
Number of pages | 7 |
ISSN | 1018-4813 |
DOIs | |
Publication status | Published - 2006 |
Bibliographical note
Keywords: Age of Onset; Chromosome Mapping; Cohort Studies; Female; Heterozygote Detection; Humans; Male; Pedigree; Questionnaires; Translocation, Genetic
ID: 14309340