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Am J Hum Genet. 1998 Jul;63(1):218-24.

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

Author information

1
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.

Abstract

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.

PMID:
9634501
PMCID:
PMC1377224
DOI:
10.1086/301900
[Indexed for MEDLINE]
Free PMC Article

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