一位46,XY,t(11;18)平衡易位携带者的联会复合体分析  

Analysis of Synaptonemal Complex from a Carrier with 46,XY,t(11;18) Balanced Translocation

作　　者：刘静宇[1] 王晓然 曾宪录[3] 张传善[3] 宋运淳[1] 

机构地区：[1]武汉大学植物发育生物学教育部重点实验室 [2]南阳市计划生育研究所,南阳473000 [3]东北师范大学遗传与细胞研究所,长春130024

出　　处：《Acta Genetica Sinica》2004年第2期125-131,共7页

基　　金：国家重点基础研究发展规划项目(编号:G1 9990 5390 2 );国家自然科学基金项目(编号 :39870 4 2 3)~~

摘　　要：运用表面铺展联会复合体 (synaptonemalcomplex ,SC)的电镜技术对一位 46,XY ,t(11;18)平衡易位携带者性细胞进行SC观察 ,分析了 3 0个精母细胞 (从早粗线期→晚粗线期 )中SC图象 ,这些精母细胞中均显示了 1个性二价体、2 0个常染色体二价体 (SC)和 1个四价体。对其中的 2 1个四价体配对行为进行分析 ,发现有 2 0个四价体发生部分异源配对 ,其中 4、14和 2个四价体分别发生在早、中和晚粗线期 ,发生在早粗线期的异源配对是一种直接的异源配对 ,与以前报道的发生在晚粗线期经联会调整的异源配对不同。并对该患者发生生殖失败的机制进行了讨论。Over ten years ago,two male patients of pregnancy wastage,who were the carriers of 4;6 and 4;13 reciprocal translocations,respectively,were analyzed with synaptonemal complexes (SCs) by de Perdigo et al.They suggested that the pregnancy wastage should be caused by heterosynapsis,which reciprocal translocations resulted in.The heterosynapsis might avoid spermatogenesis failure,but easily induced non-disjunction of some chromosomes and led to occurrence of unbalanced gametes.A new male patient of the pregnancy wastage was detected in China three years ago.Karyotyping of the patient showed 11;18 reciprocal translocation.Analysis of synaptonemal complexes (SCs) of the patient was performed using the EM technology of SC surface spreading,SDS treatment,AgNO_3 staining.The SCs of 30 spermatocytes at pachytenes were analyzed.The SCs in electron micrographs were measured by the method published by de Perdigo et al.(1991).The results showed that each of the observed spermatocytes displayed 20 autosomal bivalents,a quadrivalent 11;18 and a sexual bivalent.Of the 30 spermatocytes,21 each exhibited a quadrivalent of adequate quality for measurement and interpretation.The 21 quadrivalents were classified into three types:typeⅠ,quadrivalents with fully paired arms with the expected cross-configuration,two quadrivalents were of this type.TypeⅡ,quadrivalents with an evident heterosynapsis,forming five SC segments (four fully pairing arms and one middle pairing region),six quadrivalents were of this type.Type Ⅲ,quadrivalents with four paired arms,but with asynapsed regions around the breakpoints,thirteen quadrivalents were of this type.Based on configuration,quadrivalents were classified into cis-configuration with above three types and trans-configuration with above two types except typeⅠ.Each of the analyzed quadrivalents showed four synaptic arms,which respectively paired between chromosome 11 and t18 (the translocated 18;11),18 and t18,18 and t11 (the translocated 11;18),and 11 and t11,and the arms were designated as

关 键 词：46 XY t(11 18)平衡易位携带者 生殖失败 联会复合体 

分 类 号：Q987[生物学—遗传学]