1号染色体平衡易位及其断裂点位置与人精液质量的相关性分析

目的：探讨1号染色体平衡易位及其断裂点位置对人精液质量的影响。方法：29例男性经外周血淋巴细胞培养与G-显带核型分析，确诊为1号染色体平衡易位携带者；按照世界卫生组织《人类精液检查与处理实验室手册》进行精液常规分析。结果：大多数携带1号染色体平衡易位的患者精子密度与活力出现异常（25/29，86%）；其中携带p12、p13、q12、q21、q25断裂点的患者精子密度明显降低；携带p13、p32、p34、q12、q21、q25断裂点的患者精子活力明显降低。结论：1号染色体平衡易位可影响精子的密度与活力；精子质量受损的程度与易位断裂点的位置密切相关。对于携带1号染色体平衡易位的男性患者建议可以采用辅助生殖技术结合胚胎植入前遗传学诊断技术阻断染色体易位向下一代的传递。

Impact of chromosome 1 translocation and its breakpoint on semen quality in male carriers

OBJECTIVE: To investigate impact of chromosome 1 translocation and locations of its breakpoints on semen quality in male carriers. METHODS: Lymphocytes in peripheral blood of patients with male infertility were cultured and G-banding technique was used for karyotype analysis. Semen examinations were performed according to WHO laboratory manual for the examination and processing of human semen. RESULTS: Twenty-nine male patients with infertility were diagnosed as carriers with chromosome 1 balanced translocations. Abnormal semen parameters were observed in most of patients (25/29,86%). The different degrees of abnormal semen quality were detected in the patients with the different translocation breakpoints. CONCLUSION: The chromosome 1 balanced translocations were associated with reduced semen quality. The degree of impact was closely related to the locations of the translocation breakpoints. Some molecular investigations are needed to better understand the impact of chromosome translocations on reproductive fitness.