Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation

被引：33

作者：

Cifuentes, P ^{[1
]}

Navarro, J

Blanco, J

Vidal, F

Míguez, L

Egozcue, J

Benet, J

机构：

[1] Univ Autonoma Barcelona, Fac Med, Dept Biol Cellular & Fisiol, Unitat Biol, E-08193 Barcelona, Spain

[2] Univ Autonoma Barcelona, Fac Ciencies, Dept Biol Cellular & Fisiol, Unitat Biol Cellular, E-08193 Barcelona, Spain

[3] Diagnost Prenatal, Anexe Clin Quiron, Barcelona, Spain

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1999年 / 7卷 / 02期

关键词：

sperm chromosome; meiotic segregation; chromosome rearrangements; in situ hybridisation; whole chromosome painting; offspring risk;

D O I：

10.1038/sj.ejhg.5200274

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We have studied the meiotic segregation of a reciprocal translocation t(5;7)(q21;q32) in a male carrier, using the human sperm-hamster oocyte fusion technique and the whole chromosome painting. A total of 296 sperm complements were analysed by dual chromosome painting, The frequencies of alternate, adjacent-1, adjacent-2 and 3:1 segregation were 49.7%, 32.4%, 16.2% and 1.7% respectively. Aneuploidy frequencies for chromosomes not involved in the translocation were determined by FISH on decondensed sperm heads using probes from chromosomes X, Y, 6, 18 and 21, A total of 20 118 spermatozoa was analysed, 10 201 by two-colour FISH (probes for chromosomes 6 and 21) and 9917 by three-colour FISH (probes for chromosomes X, Y, and 18), There was no evidence of an interchromosomal effect, since disomy frequencies were within the range of normal controls.

引用

页码：231 / 238

页数：8

共 35 条

[1] SYSTEMATIC ANALYSIS OF 95 RECIPROCAL TRANSLOCATIONS OF AUTOSOMES [J].