F. Pellestor et al., CYTOGENETIC ANALYSIS OF MEIOTIC SEGREGATION IN SPERM FROM 2 MALES HETEROZYGOUS FOR RECIPROCAL TRANSLOCATIONS USING PRINS AND HUMSTER TECHNIQUES, Cytogenetics and cell genetics, 78(3-4), 1997, pp. 202-208
The meiotic segregation patterns of 2 reciprocal translocations 1(7;9)
(q33;p21) and t(7;18)(q35;q11) were analyzed in sperm of 2 heterozygot
e carriers. Both sperm karyotyp ing and in situ PRINS labeling of sper
m nuclei were performed on a sperm sample from each subject. Using the
humster technique, 54 and 72 sperm chromosome complements were succes
sfully analyzed fur the t(7;9) and the t(7;18) respectively, The frequ
encies of alternate, adjacent 1, adjacent 2 and 3:1 segregations were
44.44%, 37.04%, 12.96% and 5.56% for the t(7;9) and 33.33%, 43.05%, 19
.45% and 4.17% for the t(7;18). The PRINS procedure allowed the rapid
screening of large samples of spermatozoa. However, alternate and adja
cent I segregants were not discriminated because of the generation of
centromeric signals. The segregation pattern was determined on 10,658
spermatozoa for the t(7;9) and 10,462 for the t(7;18). The distributio
ns of segregants were similar to those obtained by sperm karyotyping.
These data were pooled with results from 37 reciprocal translocations
previously studied by sperm karyotyping and 6 recently investigated by
FISH. The analysis of these compiled data demonstrates the particular
ity of the production of imbalances in male gametes; independent of th
e predisposition for a type of imbalance at term. there is a preferent
ial production of adjacent 1 imbalance in sperm.