Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sèle B
Reproductive Biology Unit, DyOGen Laboratory, Albert Bonniot Institute, Grenoble University Medical School, La Tronche, France.
Hum Genet. 1996 Feb;97(2):171-5. doi: 10.1007/BF02265260.
Meiotic segregation of gonosomes from a 46,XY/47,XXY male was analysed by a three-colour fluorescence in situ hybridisation (FISH) procedure. This method allows the identification of hyperhaploid spermatozoa (with 24 chromosomes), diploid spermatozoa (with 46 chromosomes) and their meiotic origin (meiosis I or II). Alpha satellite DNA probes specific for chromosomes X, Y and 1 were observed on 27,097 sperm nuclei. The proportions of X- and Y-bearing sperm were estimated to 52.78% and 43.88%, respectively. Disomy (24,XX, 24,YY, 24,X or Y,+1) and diploidy (46,XX, 46,YY, 46,XY) frequencies were close to those obtained from control sperm, whereas the frequency of hyperhaploid 24,XY spermatozoa (2.09%) was significantly increased compared with controls (0.36%). These results support the hypothesis that a few 47,XXY germ cells would be able to complete meiosis and to produce mature spermatozoa.
通过三色荧光原位杂交（FISH）程序分析了一名46,XY/47,XXY男性性染色体的减数分裂分离情况。该方法能够鉴定超单倍体精子（含24条染色体）、二倍体精子（含46条染色体）及其减数分裂起源（减数分裂I或II）。在27097个精子核上观察到了对X、Y和1号染色体特异的α卫星DNA探针。估计含X和含Y精子的比例分别为52.78%和43.88%。二体（24,XX、24,YY、24,X或Y,+1）和二倍体（46,XX、46,YY、46,XY）的频率与对照精子相近，而超单倍体24,XY精子的频率（占2.09%）相比对照（占0.36%）显著增加。这些结果支持了这样的假设，即少数47,XXY生殖细胞能够完成减数分裂并产生成熟精子。
