FISH analysis with locus-specific probes in sperm from two translocation carrier men

Authors: Durak, Beyhan1; Hakan Özön, Yavuz1; Özdemir, Muhsin1; Artan, Sevilhan1; Basaran, Nurettin1; Basaran, Seher2; Özkinay, Cihangir3

Source: Clinical Genetics, Volume 56, Number 2, August 1999 , pp. 129-135(7)

Publisher: Blackwell Publishing

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Abstract:

Meiotic segregation of normal and derivative chromosomes was analysed in sperm samples from two balanced reciprocal translocation carrier men by use of dual-colour fluorescence in situ hybridisation (FISH) technique. The translocations were t(4;8)(p15;p12) and t(15;22)(q(23;q13.2), and the digoxigenin-labelled FISH probes were specific to either the translocated or centric segments of the chromosomes involved in the translocations. A total of 1000 spermatozoa for each probe were analysed and the modes of segregation were described on the basis of signals in each sperm cell. The mean frequency of alternate and/or adjacent-1 (adj-1) segregation types was 69.47%, whereas they were 30.51 and 78.70% for the adjacent-2 (adj-2) and alternate/adj-2 segregation types, respectively. This study illustrated that FISH is a valuable technique for analysing the meiotic segregation products of the heterozygotes in respect to aneuploidy risk.

Keywords: chromosome segregation; chromosomal translocation; FISH; gametogenesis; human sperm; human sperm chromosomes; meiotic chromosomes; meiotic segregation

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.560206.x

Affiliations: 1: Department of Medical Genetics, Osmangazi University Medical Faculty, Eskisehir, 2: Institute of Child Health, Department of Genetics, Istanbul University Çapa, Istanbul, 3: Department of Pediatrics, Division of Genetics, Ege University Medical Faculty, Bornova-Izmir, Turkey

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