Hajlaoui A, Slimani W, Kammoun M, Sallem A, Braham S, Bibi M, Saad A, Mougou-Zerelli S
Department of Cytogenetic and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Department of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia.
Andrologia. 2018 Jan 15. doi: 10.1111/and.12949.
Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers of translocations, four reciprocals and two Robertsonians, were investigated. In addition, seven fertile men with normal 46,XY karyotypes and normal sperm characteristics were enrolled as a control group. Spermatic fluorescent in situ hybridisation specific for chromosomes X, Y, 18, 21 and 22 was carried out. The Mann-Whitney U-test was used to compare the aneuploidy rates between patients and controls. All translocation carriers showed significantly increased frequencies of disomy of all investigated chromosomes, and diploid gametes compared with the control group (p < .05). However, disomy XY was not significantly different between controls and patients (p > .05). We have also observed a considerable interindividual variability in disomy and diploidy rates. These results confirm that the interchromosomal effect seems to exist and could contribute to higher rates of abnormal prenatal aneuploidy, resulting in a small increase in the risk of miscarriage and birth of children with congenital abnormalities and a potential reduction in fertility.
结构性染色体异常、易位和倒位的携带者产生非整倍体配子的风险增加。除了对相关染色体的直接影响外，这些重排可能会在减数分裂过程中干扰其他结构正常染色体的分离。这种现象被称为染色体间效应。在本研究中，对6名易位携带者男性进行了调查，其中4例为相互易位，2例为罗伯逊易位。此外，招募了7名核型为正常46,XY且精子特征正常的可育男性作为对照组。对染色体X、Y、18、21和22进行了精子荧光原位杂交。采用曼-惠特尼U检验比较患者和对照组的非整倍体率。与对照组相比，所有易位携带者的所有研究染色体的二体性频率和二倍体配子频率均显著增加（p < 0.05）。然而，对照组和患者之间XY二体性无显著差异（p > 0.05）。我们还观察到二体性和二倍体率存在相当大的个体间差异。这些结果证实染色体间效应似乎存在，并可能导致产前非整倍体异常率升高，导致流产风险略有增加以及先天性异常儿童出生风险增加，并可能导致生育力下降。
