Lu P Y, Hammitt D G, Zinsmeister A R, Dewald G W
Division of Reproductive Endocrinology, Mayo Clinic, Rochester, Minnesota 55905.
Fertil Steril. 1994 Aug;62(2):394-9. doi: 10.1016/s0015-0282(16)56896-4.
To establish the relative frequency of aneuploidy in sperm from normal and abnormal subjects using dual color fluorescence in situ hybridization and probes for six different chromosomes.
Semen from 33 normal males and a patient with a translocation was studied using dual color fluorescence in situ hybridization with probes for chromosomes 4, 7, 8, 12, 18, X and Y. The frequency of aneuploidy for each chromosome is compared with one another and with the patient who had a t(2;4;8)(q23;q27;p21).
Specimens were obtained from patients at the Mayo Clinic, Rochester, Minnesota.
The percentage of sperm with disomy or nullisomy in normal subjects ranged from 0.2% to 0.6% for each of the chromosomes studied. No statistically significant differences were observed between these chromosomes. The frequency of aneuploidy in sperm from a patient with a t(2;4;8) was 3.3% and 4.8% for chromosomes 4 and 8, respectively.
Fluorescence in situ hybridization was useful to establish the normal range of nullisomic and disomic sperm for six different chromosomes and to study a patient with a clinically significant chromosome abnormality. In normal males, no difference in the frequency of meiotic nondisjunction was observed among the chromosomes studied.
运用双色荧光原位杂交技术及针对六条不同染色体的探针，确定正常及异常受试者精子中染色体非整倍体的相对频率。
采用针对4号、7号、8号、12号、18号、X和Y染色体的探针，通过双色荧光原位杂交技术，对33名正常男性及一名患有易位的患者的精液进行研究。将每条染色体的非整倍体频率相互比较，并与一名患有t(2;4;8)(q23;q27;p21)的患者进行比较。
标本取自明尼苏达州罗切斯特市梅奥诊所的患者。
在所研究的每条染色体中，正常受试者精子中出现二体或单体的百分比在0.2%至0.6%之间。这些染色体之间未观察到统计学上的显著差异。一名患有t(2;4;8)的患者的精子中，4号和8号染色体的非整倍体频率分别为3.3%和4.8%。
荧光原位杂交技术有助于确定六条不同染色体单体和二体精子的正常范围，并用于研究一名具有临床显著意义的染色体异常患者。在正常男性中，所研究的染色体之间减数分裂不分离频率未观察到差异。
