双色荧光原位杂交检测正常人精子9、18号染色体非整倍体率  

DETECTION OF ANEUPLOIDIES FOR CHROMOSOME 9,18 IN SPERM OF NORMAL MALES USING TWO-COLOR FLUORESCENCE IN SITU HYBRIDIZATION

作　　者：李欣[1] 郑履康[2] 邓丽霞[2] 张桥[2] 

机构地区：[1]广东省疾病预防控制中心毒理所,广东广州510300 [2]中山医科大学公共卫生学院遗传毒理研究室,广东广州510080

出　　处：《癌变．畸变．突变》2002年第2期80-83,共4页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金：广东省自然科学基金 ( 0 0 1334)

摘　　要：目的 :测定健康人精子 9、18号染色体非整倍体率。方法 :用 9、18号染色体着丝粒探针与精子核进行双色荧光原位杂交 ,计数非整倍体率。结果 :检查 16位健康捐精者 15 6 95 5个精子 ,每人约计数 10 0 0 0个精子。平均杂交率 >99%,平均 9双体率 0 .0 5 0 %± 0 .0 30 %,18双体率 0 .0 33%± 0 .0 2 5 %,二倍体精子率 0 .0 40 %± 0 .0 36 %,9缺体率 0 .0 6 7%± 0 .0 37%,18缺体率 0 .0 48%± 0 .0 34 %,无荧光点精子率 0 .42 7%± 0 .35 7%,总数目畸变率 0 .2 18%± 0 .0 71%。结论 :测定了 16例健康人精子 9、18号染色体非整倍体率 ,与传统的人精子染色体分析法测定的结果相近。Purpose: To detect the frequencies of aneuploidy for chromosome 9 and 18 in sperm of healthy males. Methods: Two-color fluorescence in situ hybridization (FISH) was performed on sperm nuclei using centromeric probes for chromosome 9 and 18, and the frequencies of aneuploidy were scored. Results: 156 955 sperm nuclei were detected in 16 healthy adults. About 10 000 sperm nuclei were scored from each of 16 donors and the average efficiency of hybridization was above 99 %. The mean frequencies of disomy obtained were {0.050 %}±0.030 % for chromosome 9,0.033 %±0.025 % for chromosome 18. The nullisomy frequencies of chromosome 9 and 18 were found to be 0.067 %±0.037 %, 0.048 %±0.034 % respectively. Diploidy was observed as 0.040 %±0.036%. The frequency of total numerical aberration was 0.218 %±0.071 %. Conclusion: The aneuploidy for chromosome 9 and 18 in sperm of 16 healthy males was detected in this research, the result was similar to that of traditional sperm karyotype analysis.

关 键 词：精子 双色荧光原位杂交 检测 染色体 非整倍体率 

分 类 号：R321.1[医药卫生—人体解剖和组织胚胎学]