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      Direct evidence for suppression of recombination within two pericentric inversions in humans: a new sperm-FISH technique.

      American Journal of Human Genetics

      Animals, Cell Fusion, genetics, Chromosome Banding, Chromosome Breakage, Chromosome Inversion, Chromosomes, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 8, Cricetinae, Crossing Over, Genetic, Heterozygote, Humans, In Situ Hybridization, Fluorescence, methods, Male, Recombination, Genetic, Spermatozoa, pathology

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          Crossover within a pericentric inversion produces reciprocal recombinant chromosomes that are duplicated/deficient for all chromatin distal to the breakpoints. In view of this fact, a new technique is presented for estimating the frequency of recombination within pericentric inversions. YAC probes were selected from within the q- and p-arm flanking regions of two human inversions, and two-color FISH analysis was performed on sperm from heterozygous inversion carriers. A total of 6,006 sperm were analyzed for chromosome 1 inversion (p31q12), and 3,168 were analyzed for chromosome 8 inversion (p23q22). Both inversions displayed suppression of crossing-over, although the amount of suppression differed between the two inversions. The recombination frequency of 13.1% recorded for chromosome 8 inversion was similar to the frequency of 11.4% previously estimated by the human/hamster-fusion method. For chromosome 1 inversion, the recombination frequency of 0. 4% reported here was below the limits of detection of the fusion technique. The simplicity of the FISH technique and the ease of scoring facilitate analysis of a sample-population size much larger than previously had been possible.

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