Carcinogenesis, Teratogenesis & Mutagenesis ›› 2020, Vol. 32 ›› Issue (5): 391-394.doi: 10.3969/j.issn.1004-616x.2020.05.011

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

LIU Jing1, HAN Tingting2, MENG Xiangqian1, HUANG Tingting1, WEN Zina1, ZHOU Lingyi1, LIAO Xue2, LI Lingxiao2, ZHANG Xinyue2, ZHONG Ying1, HUANG Jihua2   

  1. 1. Center for Reproductive Medicine, Chengdu Jinjiang Hospital for Maternal and Child Health Care, Chengdu 610061;
    2. Chengdu Jinxin Research Institute for Reproductive Medicine and Genetics, Chengdu 610061, Sichuan, China
  • Received:2020-06-20 Revised:2020-08-18 Online:2020-10-01 Published:2020-10-12

Abstract: 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.

Key words: chromosome 1, balanced translocation, breakpoint, male infertility

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