Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of these rearrangements, using either the human-hamster fertilization system or fluorescence in situ hybridization (FISH) with centromeric or telomeric DNA probes. To improve the assessment of imbalances in PAI, we present a new strategy based on FISH assay using multiple bacterial artificial chromosome probes, which allow a precise localization of chromosome break points and the identification of all meiotic products in human sperm. Sperm samples of three cases with PAI were investigated: an inv(5)(q13.2q33.1), an inv(9)(q21.2q34.13) and an inv(14)(q23.2q32.13). The frequencies of spermatozoa with inverted chromosomes were 44.7% in inv(5), 42.7% in inv(9) and 46.7% in inv(14). The global incidences of unbalanced complements were 9.7, 12.6 and 3.7% in inv(5), inv(9) and inv(14), respectively. This report is the first study providing a detailed description of meiotic segregation patterns in human sperm by using a sperm FISH approach. This study demonstrates that the detailed analysis of segregation in PAI may provide important data for both genetic analysis and counseling of inversion carriers.
Bhatt
Samarth
S
CHU Montpellier, Institute for Research in Biotherapy, Hôpital Saint-Eloi, Montpellier, France.
Moradkhani
Kamran
K
Mrasek
Kristin
K
Puechberty
Jacques
J
Manvelyan
Marina
M
Hunstig
Friederike
F
Lefort
Genevieve
G
Weise
Anja
A
Lespinasse
James
J
Sarda
Pierre
P
Liehr
Thomas
T
Hamamah
Samir
S
Pellestor
Franck
F
D000328:Adult; D019457:Chromosome Breakage; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D020090:Chromosome Segregation; D022202:Chromosomes, Artificial, Bacterial; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D018895:Microsatellite Repeats; D008875:Middle Aged; D015335:Molecular Probes; D013094:Spermatozoa / Q000502:physiology*
D015335:Molecular Probes