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目的研究男性不育患者精母细胞减数分裂过程中同源染色体联会及重组的异常,探讨男性不育的细胞遗传学因素。方法应用铺展法及免疫荧光技术制备精母细胞联会复合体,以SCP3抗体、MLHl抗体和CREST抗血清来标记联会复合体侧轴、重组位点和着丝点,对比分析男性不育患者与正常可育男性精母细胞减数分裂联会及重组情况。结果病例组中42%的患者睾丸组织中缺乏生精细胞;相比对照组,病例组具有较高的细线期、偶线期细胞比例和较低的粗线期细胞比例(P<0.05);病例组中粗线期细胞的平均重组点数降低,常染色体缺乏重组位点的平均频率升高、性染色体上有重组位点的平均频率降低(P<0.05)。同时,相比对照组,病例组中同源染色体联会复合体上未配对区域升高(P<0.05),含有至少有一个二价体无重组位点的细胞的比例升高(P<0.05)。结论精母细胞减数分裂过程中的联会和重组发生异常是导致精子发生障碍的重要因素。
Objective To study the association of homologous chromosomes and recombination in the process of spermatocyte meiosis in male infertility and to explore the cytogenetic factors of male infertility. METHODS: The spermatocyte association complex was prepared by spreading method and immunofluorescence technique. The side axis, recombination sites and centromeric dots of the complex were labeled with SCP3 antibody, MLH1 antibody and CREST antiserum, and comparative analysis of male infertility patients Mesenchymal association and recombination with normal fertile male spermatocytes. Results In the case group, 42% of the testis patients lacked spermatogenic cells. Compared with the control group, the patients in the test group had higher proportion of fine line, even line phase and lower proportion of thick line cells (P <0.05) The average recombination points of pachytene cells in the case group decreased, the average frequency of the autosomal lacking recombination site increased, and the average frequency of recombination sites on the sex chromosome decreased (P <0.05). At the same time, the unpaired regions of homologous chromosome association complex in the case group increased (P <0.05) and the proportion of cells with at least one bivalent uncombined site increased (P <0.05 ). Conclusion Abnormal synapsis and recombination during the process of spermatocyte meiosis is an important factor that causes spermatogenesis disorder.