Duzcan Fusun, Aybek Zafer, Tepeli Emre, Caner Vildan, Cetin Gokhan Ozan, Aybek Hulya, Bagci Huseyin
Departments of Medical Biology, Biochemistry and Urology, Faculty of Medicine, Pamukkale University, Denizli, Turkey.
J Reprod Med. 2006 Jun;51(6):489-92.
A large number of studies have shown that the prevalence of somatic chromosome abnormalities detectable with karyotyping is higher in infertile men. However, a normal somatic karyotype does not exclude the chance of having low level mosaicism.
Eleven men with severe oligozoospermia and 10 healthy, fertile men were included in this study. All the patients had severe oligozoospermia with sperm counts < or =3,000,000/ mL. All participants had normal physical findings and testicular volume. The probe for dual-color fluorescence in situ hybridization consisted of an alpha satellite sequence in the centromeric region of chromosome X (DXZ1) and satellite III DNA at the Yq12 region of chromosome Y (DYZ1).
The sex chromosome aneuploidy rate was significantly higher in subjects than in controls (p<0.001). The median incidence of sex chromosome aneuploidy in the oligozoospermic group was 4.5% (range, 0.8-7.3%), while in the control group it was 0.7% (range, 0.2-1.2%).,
The incidence of aneuploidy in somatic cells is significantly greater in oligozoospermic men than in normal controls. That may suggest that chromosome instability is a result of altered genetic control during mitotic cell division. Our results demonstrate that men with oligozoospermia have an elevated risk for sex chromosome abnormalities in their somatic cells.
大量研究表明，通过核型分析可检测到的体细胞染色体异常在不育男性中的发生率更高。然而，正常的体细胞核型并不能排除存在低水平嵌合体的可能性。
本研究纳入了11名严重少精子症男性和10名健康、可育男性。所有患者均患有严重少精子症，精子计数≤300万/mL。所有参与者身体检查结果和睾丸体积均正常。双色荧光原位杂交探针由X染色体着丝粒区域的α卫星序列（DXZ1）和Y染色体Yq12区域的卫星III DNA（DYZ1）组成。
研究对象的性染色体非整倍体率显著高于对照组（p<0.001）。少精子症组性染色体非整倍体的中位发生率为4.5%（范围为0.8 - 7.3%），而对照组为0.7%（范围为0.2 - 1.2%）。
少精子症男性体细胞中非整倍体的发生率显著高于正常对照组。这可能表明染色体不稳定性是有丝分裂细胞分裂过程中基因控制改变的结果。我们的结果表明，少精子症男性体细胞中性染色体异常的风险增加。
