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

doi:10.3969/j.issn.1004-616x.2020.05.011

癌变·畸变·突变 ›› 2020, Vol. 32 ›› Issue (5): 391-394.doi: 10.3969/j.issn.1004-616x.2020.05.011

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

刘敬¹, 韩婷婷², 孟祥黔¹, 黄婷婷¹, 温子娜¹, 周凌易¹, 廖雪², 李凌霄², 张心悦², 钟影¹, 黄继华²

1. 成都市锦江区妇幼保健院生殖医学中心, 四川成都 610061;
2. 成都锦欣生殖医学与遗传学研究所, 四川成都 610061

收稿日期:2020-06-20 修回日期:2020-08-18 出版日期:2020-10-01 发布日期:2020-10-12
通讯作者: 黄继华,E-mail:en_huang@sina.cn E-mail:en_huang@sina.cn
作者简介:刘敬,E-mail:liuj@jxr-fertility.com。
基金资助:
四川省卫生和计划生育委员会科研课题（18PJ010）

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. 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

摘要/Abstract

摘要： 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。

关键词: 1号染色体, 平衡易位, 断裂点, 男性不育

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

中图分类号:

R394

刘敬, 韩婷婷, 孟祥黔, 黄婷婷, 温子娜, 周凌易, 廖雪, 李凌霄, 张心悦, 钟影, 黄继华. 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[J]. 癌变·畸变·突变, 2020, 32(5): 391-394.

LIU Jing, HAN Tingting, MENG Xiangqian, HUANG Tingting, WEN Zina, ZHOU Lingyi, LIAO Xue, LI Lingxiao, ZHANG Xinyue, ZHONG Ying, HUANG Jihua. Impact of chromosome 1 translocation and its breakpoint on semen quality in male carriers[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2020, 32(5): 391-394.

参考文献

[1] SCHILIT S L P, MENON S, FRIEDRICH C, et al. SYCP₂ translocation-mediated dysregulation and frameshift variants cause human male infertility[J]. bioRxiv, 2019. DOI:10.1101/641928.
[2] KRAUSZ C, RIERA-ESCAMILLA A. Genetics of male infertility[J]. Nat Rev Urol, 2018, 15(6):369-384.
[3] FLANNIGAN R, SCHLEGEL P N. Genetic diagnostics of male infertility in clinical practice[J]. Best Pract Res Clin Obstet Gynaecol, 2017, 44:26-37.
[4] BACHE I, ASSCHE E V, CINGOZ S, et al. An excess of chromosome 1 breakpoints in male infertility[J]. Eur J Hum Genet, 2004, 12(12):993-1000.
[5] World Health Organization. WHO laboratory manual for the examination and processing of human semen[M]. 5th ed. Geneva:WHO Press, 2010:7-113.
[6] HARTON G L, TEMPEST H G. Chromosomal disorders and male infertility[J]. Asian J Androl, 2012, 14(1):32-39.
[7] PIZZOL D, FERLIN A, GAROLLA A, et al. Genetic and molecular diagnostics of male infertility in the clinical practice[J]. Front Biosci (Landmark Ed), 2014, 19:291-303.
[8] FLANNIGAN R, SCHLEGEL P N. Genetic diagnostics of male infertility in clinical practice[J]. Best Pract Res Clin Obstet Gynaecol, 2017, 44:26-37.
[9] YE Y, QIAN Y, XU C, et al. Meiotic segregation analysis of embryos from reciprocal translocation carriers in PGD cycles[J]. Reprod Biomed Online, 2012, 24(1):83-90.
[10] ANTON E, VIDAL F, BLANCO J. Reciprocal translocations:tracing their meiotic behavior[J]. Genet Med, 2008, 10(10):730-738.
[11] ZHANG Y, ZHU S, WU J, et al. Quadrivalent asymmetry in reciprocal translocation carriers predicts meiotic segregation patterns in cleavage stage embryos[J]. Reprod Biomed Online, 2014, 29(4):490-498.
[12] KO D S, CHO J W, PARK S Y, et al. Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers[J]. Am J Med Genet A, 2010, 152A(6):1428-1433.
[13] MARTIN R H. Cytogenetic determinants of male fertility[J]. Hum Reprod Update, 2008, 14(4):379-390.
[14] LIM C K, CHO J W, SONG I O, et al. Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes[J]. Fertil Steril, 2008, 90(6):2144-2151.
[15] SCRIVEN P N, HANDYSIDE A H, OGILVIE C M. Chromosome translocations:segregation modes and strategies for preimplantation genetic diagnosis[J]. Prenat Diagn, 1998, 18(13):1437-1449.
[16] LI G, IQBAL F, WANG L, et al. Meiotic defects and decreased expression of genes located around the chromosomal breakpoint in the testis of a patient with a novel 46, X, t(Y;1)(p11.3;p31) translocation[J]. Int J Mol Med, 2017, 40(2):367-377.
[17] BACHE I, ASSCHE E V, CINGOZ S, et al. An excess of chromosome 1 breakpoints in male infertility[J]. Eur J Hum Genet, 2004, 12(12):993-1000.
[18] PALIWAL P, SHARMA A, SAHOO J, et al. An unusual association of hypospadias with partial deletion of chromosome 1q[J]. Fertil Steril, 2010, 93(7):2413.e11-2413.e13.
[19] LI R, WANG X, FENG S, et al. Chromosome 1q21 translocation and spermatogenesis failure:Two case reports and review of the literature[J]. Medicine (Baltimore), 2019, 98(52):e18588.
[20] WANG R X, ZHANG H G, PAN Y, et al. Chromosome 7 translocation breakpoints in male carriers:clinical features and implications for genetic counseling[J]. Genet Mol Res, 2016. DOI:10.4238/gmr15048948.

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

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

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