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Clues to cause of pediatric glaucoma found in DNA fragments

Hum Mol Genet. 2008;17(22):3446-3458.

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A spectrum of recombination, DNA repair and replication underlie chromosome 6p25 rearrangements, researchers have found. Chromosome 6p25 is associated with some types of childhood glaucoma.

The researchers said that this strong evidence has implications for genesis of copy number variations in other genomic regions as well, reinforcing the need for extensive studies to characterize structural variants at the base pair level.

They studied 10 chromosome duplication and deletion pedigrees using array comparative genome hybridization and amplifying the junction fragments. All rearrangements were nonrecurrent, and most segmental duplications and deletions used coupled homologous

and nonhomologous recombination. The study results broadened the scope of mechanisms being researched for their role in causing variations in copy numbers.