Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D, Sèle B
Reproductive Biology Unit, DyOGen, Albert Bonniot Institute, Grenoble University Medical School, La Tronche, France.
Hum Genet. 1995 Dec;96(6):655-60. doi: 10.1007/BF00210294.
The meiotic segregation of chromosomes 14 and 21 was analysed in 1116 spermatozoa from an oligoasthenospermic carrier of a Robertsonian translocation t(14q21q), and in 16,392 spermatozoa from a control donor, using two-colour fluorescence in situ hybridisation (FISH). Two YAC probes (cloned in yeast artificial chromosomes) specific for regions on the long arms of these chromosomes were co-hybridised. Of the spermatozoa, 12% were unbalanced, resulting from adjacent segregations. Chromosomes X, Y and 1 were also simultaneously detected in 1335 spermatozoa from the same carrier. Whereas gonosomal disomy rates were not significantly different from those of the control donors, disomy 1 were slightly but significantly increased to 0.7%. The diploidy rate was also slightly increased to approximately 1% in the translocation carrier.
利用双色荧光原位杂交（FISH）技术，对一名罗伯逊易位t(14q21q)的少弱精子症携带者的1116个精子以及一名对照供者的16392个精子中的14号和21号染色体减数分裂分离情况进行了分析。使用了两个针对这些染色体长臂区域的酵母人工染色体（YAC）特异性探针进行共杂交。在精子中，12%由于相邻分离而出现不平衡。还在同一携带者的1335个精子中同时检测了X、Y和1号染色体。虽然性染色体二体率与对照供者无显著差异，但1号染色体二体率略有升高但显著增加至0.7%。易位携带者的二倍体率也略有升高至约1%。
