Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using the hamster in vitro penetration system

Abstract

Sperm chromosomal complements of a man heterozygous for two reciprocal translocations and exhibiting the karyotype 46,XY,t(5;11) (p13;q23.2),t(7;14)(q11;q24.1) were analyzed following in vitro fusion with golden hamster zona-free eggs (the hamster in vitro penetration [HIP] system). Products of alternate, adjacent 1, and 3:1 segregation at meiosis I of both translocation quadrivalents were recovered, and the analysis of their output, which was dissimilar between the two translocations, permitted prediction of probable sites of chiasma formation in the chromosomes involved in the translocation. These data, which comprise the first reported analysis of the products of two translocations in a single individual (hence, in a common genetic background), emphasize the uniqueness in genetic behavior of individual translocations; they further demonstrate the usefulness of the HIP system to carry out such studies.