Genetically determined asynapsis, spermatogenic degeneration, and infertility in men.
Genetically determined asynapsis, spermatogenic degeneration, and infertility in men.
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遗传决定的男性不突触、生精变性和不育。
DOI：
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发表时间：
1980
影响因子：
9.8
通讯作者：
J. Williams
中科院分区：
文献类型：
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作者：
R. Chaganti;S. Jhanwar;L. Ehrenbard;I. Kourides;J. Williams
我们报告一个家庭，其中无精子症和不孕症影响两个同胞的父母是堂兄弟一旦删除。先证者的减数分裂细胞具有正常男性（46，XY）的染色体互补，表现出不联会，联会复合体（SC）形成缺陷，交叉失败，以及不联会的前期精母细胞变性。根据这些观察，我们认为，减数分裂异常和不育在这个家庭包括一个性状与常染色体隐性遗传方式。回顾已发表的不育男性与正常的染色体互补和减数分裂紊乱的病例表明，遗传决定的不联会和联会消失类似于植物和昆虫物种中建立的，也发生在人类。在人类中，不联会似乎是作为一种常染色体隐性遗传。突触不连的遗传方式尚不清楚，在一个家系中有X连锁隐性或常染色体显性遗传。我们的研究和文献中其他人的研究表明，影响突触并导致终变期可见交叉数量减少的基因的作用方式与导致减数分裂重组缺陷、体细胞DNA诱导损伤修复缺陷和染色体不稳定的基因的作用方式不同。
We report a family in which azoospermia and infertility affected two sibs whose parents were first cousins once removed. Meiotic cells of the proband, who had the chromosomal complement of a normal male (46,XY), exhibited asynapsis, defective synaptonemal complex (SC) formation, chiasma failure, and degeneration of prophase spermatocytes with asynapsis. Based on these observations, we suggest that the meiotic abnormalities and infertility in this family comprise a trait with an autosomal recessive mode of inheritance. Review of published cases of infertile men with normal chromosomal complements and disturbed meiosis suggests that genetically determined asynapsis and desynapsis similar to that established in plant and insect species also occur in humans. In humans, asynapsis appears to be inherited as an autosomal recessive. The mode of inheritance of desynapsis is not clear; X-linked recessive or autosomal dominant has been suggested in one family. Studies by us and by others reported in the literature suggest that the mode of action of genes that affect synapsis and cause a reduction in the numbers of visible chiasmata at diakinesis is dissimilar to that of the action of genes that cause defective meiotic recombination, defective repair of induced damage to DNA in somatic cells, and chromosome instability.