Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome 9q32-q34.3

To investigate patterns of genetic recombination within a heterozygous paracentric inversion of chromosome 9 (46XY inv[9] [q32q34.3]), we performed sperm typing using a series of polymorphic microsatellite markers spanning the inversion region. For comparison, two donors with cytogenetically normal...

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Bibliographic Details
Published in:American journal of human genetics 1998-06, Vol.62 (6), p.1484-1492
Main Authors: Brown, Graeme M., Leversha, Margaret, Hulten, Maj, Ferguson-Smith, Malcolm A., Affara, Nabeel A., Furlong, Robert A.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Case-Control Studies
Chromosome 9
Chromosome Inversion
Chromosomes, Human, Pair 9
General aspects. Genetic counseling
Genetic Variation
Heterozygote
Humans
Male
Medical genetics
Medical sciences
Meiosis - genetics
Meiotic recombination
Microsatellite Repeats
Paracentric inversion
Recombination, Genetic
Sperm typing
Spermatozoa - physiology
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Summary:To investigate patterns of genetic recombination within a heterozygous paracentric inversion of chromosome 9 (46XY inv[9] [q32q34.3]), we performed sperm typing using a series of polymorphic microsatellite markers spanning the inversion region. For comparison, two donors with cytogenetically normal chromosomes 9, one of whom was heterozygous for a pericentric chromosome 2 inversion (46XY inv[2] [p11q13]), were also tested. Linkage analysis was performed by use of the multilocus linkage-analysis program SPERM, and also CRI-MAP, which was adapted for sperm-typing data. Analysis of the controls generated a marker order in agreement with previously published data and revealed no significant interchromosomal effects of the inv(2) on recombination on chromosome 9. FISH employing cosmids containing appropriate chromosome 9 markers was used to localize the inversion breakpoint of inv(9). Analysis of inv(9) sperm was performed by use of a set of microsatellite markers that mapped centromeric to, telomeric to, and within the inversion breakpoints. Three distinct patterns of recombination across the region were observed. Proximal to the centromeric breakpoint, recombination was similar to normal levels. Distal to the telomeric breakpoint, there was an increase in recombination found in the inversion patient. Finally, within the inversion, recombination was dramatically reduced, but several apparent double recombinants were found. A putative model explaining these data is proposed.
ISSN:0002-9297
1537-6605
DOI:10.1086/301863