Baulch J E, Lowe X R, Bishop J B, Wyrobek A J
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA.
Mutat Res. 1996 Dec;372(2):269-78. doi: 10.1016/s0027-5107(96)00146-7.
Multi-color fluorescence in situ hybridization (FISH) was employed to investigate variations in the frequency of aneuploid spermatids produced by males derived from three separate lines of Robertsonian translocations in mice: Rb(2.8)2Lub, Rb(8.12)22Lub, and Rb(8.14)16Rma, each with one arm involving chromosome 8. The DNA probes used were specific for repetitive sequences on chromosomes 8 and X. Heterozygous males for these Robertsonian translocations produced approximately 1% of spermatids with hyperhaploid for chromosome 8. which was > 80 times higher than the frequency of sperm hyperhaploid for chromosome X within the same animals; consistent elevations in chromosome-8 sperm disomy were observed among lines. In addition, approximately 25% higher fractions of sperm aneuploidy were observed when the Robertsonian translocation was inherited from the father rather than from the mother (p = 0.009). These findings illustrate the sensitivity of the FISH procedure for detecting small differences in the hyperhaploidy in male germ cells and suggest that imprinted factors may influence sperm aneuploidy.
采用多色荧光原位杂交（FISH）技术，研究源自小鼠罗伯逊易位三个独立品系的雄性小鼠产生的非整倍体精子细胞频率的变化：Rb(2.8)2Lub、Rb(8.12)22Lub和Rb(8.14)16Rma，每个品系的一条臂都涉及8号染色体。所用的DNA探针针对8号染色体和X染色体上的重复序列。这些罗伯逊易位的杂合雄性小鼠产生的精子细胞中，约1%为8号染色体超单倍体，这比同一动物中X染色体精子超单倍体的频率高出80倍以上；各品系中均观察到8号染色体精子二体性持续升高。此外，当罗伯逊易位从父亲而非母亲遗传时，观察到精子非整倍体的比例约高25%（p = 0.009）。这些发现说明了FISH程序检测雄性生殖细胞超单倍体微小差异的敏感性，并表明印记因子可能影响精子非整倍体。
