Molecular cytogenetic study of sperm in men of translocation carrier

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1. Meiotic segregation of chromosomes 3,9,14,17,18 and 21 was stdied in sperm from a man of 45, XY,+der (14 ; 21) (q10 ; q10). Two -color FISH was performed with chromosome specif DNA probes (D3Z1, D9Z5, D14S308, D17Z1, D18Z1 and D21S65). The frequencies of sperm having (21 21/14), (21/14 14), (21/-), (-/14) signals were 2.3%, 3.3%, 2.6%, 3.4% respectively which were higher thatn those of control men and lower than those of theoretical frequency (16.7%). The frequency of sperm balanced was 88.3% which was lower than those of control men. For chromosome 3,9,17 and 18, the frequencies of disomic sperm in the RT carrier were compalable to those of control men. These data indicate the there is some selection during or after mciotic segregation, with no evidence for an inter-chromosomal effect on other ancuploidy in the RT carrier.2. Molecular cytogenetic analysis was done with sperm from a man heterozygous for a 46, XY,t (3 ; 9) (q26.2 ; q32) reciprocal translocation carrier using three color FISH with three DNA probes [CEP3, CEP9, and Tel 3q] and [D18Zq, DXZ1 and DYZ1]. The frequencies of sperm resulting from alternate segregation, adjacent 1 segregation, adjacent 2 segregation, and 3 : 1 segregation were 52.5%, 35.9%, 5.44%, 5.93%, respectively in a carrier, and that of sperm with balanced segregation was 98.7% in a control man. The frequency of 18 disomy, XX disomy, XY disomy, YY disomy, and diploid sperm in the carrier was not significantly different from that in a control man. These data indicate that about 50% sperm are produced by unbalanced segration, and that there is no inter-chromosomal effect in the meiotic segregation of the reciprocal translocation carrier.