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作 者:刘静宇[1] 代小华[2] 曾宪录[3] 张传善[3] 郝水[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,武汉430072 [2]河南大学生命科学学院,开封475001 [3]东北师范大学遗传与细胞研究所,长春130024
出 处:《遗传》2005年第5期819-827,共9页Hereditas(Beijing)
基 金:国家重点基础研究发展规划项目(编号:G1999053902);中国博士后基金(编号:2003034496);河南大学自然科学重点基金(编号:XK03ZDSW158)资助~~
摘 要:据有关资料统计,男人中大约11%育性有障碍,其中由遗传因素引起的男性不育占居首位,包括染色体异常、微小缺失和基因突变等3类。研究表明,男性染色体畸变与精子发生失败或受孕浪费现象密切相关。联会复合体(synaptonemal complex SC)分析为揭示二者之间的关系提供了证据。文章结合近年来SC在男性不育症诊断中的应用和我们在这方面的研究结果,对男性育性障碍与SC异常的关系进行了以下5个方面的评述和讨论。(1)XY-二价体与重排染色体联合,干扰或影响X染色体的正常功能,从而干扰精子发生。(2)重排染色体在断裂点处广泛的不配对,引起精子发生失败。(3)SC粉碎化、侧生组分膨化、配对紊乱导致精子发生失败。(4)重排染色体直接的异源配对导致不平衡配子的产生而出现受孕浪费。(5)SC蛋白基因的突变引起SC超微结构的变化导致男性不育。It was said that 11% of all men showed their infertility. The genetic origins of male infertility may be classified into three main groups: chromosome abnormalities, microdeletions and gene mutations. Growing literature has shown that spermatogenesis failure or reproductive failure (pregnancy wastages) occurred in male carriers of chromosomal distortion/aberration. But the mechanisms remain largely unsolved. Synaptonemal complex (SC) of human spermatocytes from such carriers offers new information. This review aims to summarize recent development of SC analysis for male infertile diagnosis and sum up our results obtained recently. The relationship between male infertility/sterility and SC abnormity was discussed and reviewed as following five aspects. ( 1 )The association of XY-bivalent and the rearranged autosomes interfere with or affect, by their contact, X chromosome normal functions. (2)Male infertility is related to the incomplete pairing in break regions of rearranged autosomes. (3)SC fragmentation, lateral elements (LEs) swelling and pairing disorder result in spermatogenic failure. (4)This heterosynapsis at early stage of meiosis in rearranged autosomes, results in unbalanced germs and pregnancy wastages. (5)Gene mutations of SC proteins result in male infertility.
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