Department of Medical Genetics, Eskişehir Osmangazi University, Eskisehir, Turkey.
Andrologia. 2012 Dec;44(6):416-22. doi: 10.1111/j.1439-0272.2012.01298.x. Epub 2012 Apr 27.
The study was aimed to investigate the association between the degree of oligozoospermia and sperm chromosome aneuploidy frequencies in male infertility and to determine whether chromosomal profiles of sperm nuclei would be used for a supportive test before additive reproduction technics. The meiotic segregation profiles of chromosomes X, Y, 13, 18 and 21 were compared by fluorescent in-situ hybridisation (FISH) on the spermatozoa of 30 normally karyotyped oligozoospermic (10 mild, 11 moderate, nine severe) cases without Y-microdeletions, and 10 normozoospermic cases. The results showed significantly higher frequencies of chromosomes 13, 18, 21 disomies (P < 0.001) in the group of patients with moderate and severe oligozoospermia compared with the disomy frequencies of normozoospermic group. The statistically significant differences were also determined in disomy frequencies of sex chromosomes (XY, XX and YY) in between oligozoospermic and normozoospermic groups (P < 0.001, P < 0.001, P < 0.040, respectively). Because oligozoospermic patients are the ones consulted the most for assisted reproductive techniques, identification of sperm aneuploidy rates in men could be considered as an appropriate supportive test before the reproductive implementations. Furthermore, the patients should be counselled with respect to genetic screening results for the potential risk of aneuploid embryo and pre-implantation genetic diagnosis or prenatal diagnosis.
本研究旨在探讨男性不育症中少精子症的严重程度与精子染色体非整倍体频率之间的关系,并确定精子核的染色体图谱是否可用于附加生殖技术之前的辅助检测。通过荧光原位杂交(FISH)比较了 30 例正常核型少精子症(10 例轻度、11 例中度、9 例重度)患者(无 Y 微缺失)和 10 例正常精子症患者的 X、Y、13、18 和 21 号染色体的减数分裂分离谱。结果显示,与正常精子症组相比,中重度少精子症组 13、18、21 三体的频率显著升高(P<0.001)。在少精子症组和正常精子症组之间,性染色体(XY、XX 和 YY)的三体频率也存在统计学差异(P<0.001、P<0.001、P<0.040)。由于少精子症患者是最常咨询辅助生殖技术的人群,因此在实施生殖之前,识别男性的精子非整倍体率可被视为一种适当的辅助检测。此外,应根据遗传筛查结果为患者提供有关非整倍体胚胎的潜在风险、植入前遗传诊断或产前诊断的咨询。