Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, Belitz B, Bartels I, Götz J, Huhle D, Kossakiewicz M, Tittelbach H, Neubauer S, Polityko A, Mazauric M-L, Wegner R, Stumm M, Küpferling P, Süss F, Kunze H, Weise A, Liehr T, Mrasek K
Department of Genetics and Laboratory of Cytogenetics, State University, Jerewan 375025, Armenia.
Int J Mol Med. 2007 Jun;19(6):855-64. doi: 10.3892/ijmm.19.6.855.
A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal regions were involved. Thus, this study confirmed the presence of abnormal karyotypes in a subgroup of patients seeking infertility treatment. Breaks were demonstrated to appear preferentially in GTG-light bands in these patients. Furthermore, the observed breakpoints were associated with genomic regions prone to instability due to the presence of segmental duplications. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.
对48例不育患者进行了分子细胞遗传学研究，这些患者通过染色体显带技术被鉴定为平衡易位（40例）、倒位（6例）或插入（2例）携带者。不包括罗伯逊易位或2号或9号染色体臂间倒位的病例。总之，这些患者共发生了100次断裂事件，涉及90个不同的染色体区域。因此，本研究证实了寻求不育治疗的患者亚组中存在异常核型。在这些患者中，断裂优先出现在GTG浅带中。此外，由于存在节段性重复，观察到的断点与易于发生不稳定的基因组区域相关。尽管如此，未来仍需要进一步详细的分子分析来确定这一现象的机制和遗传基础。
