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[男性不育的遗传学方面]

[Genetic aspects of male infertility].

作者信息

Guichaoua M R, Luciani J M

机构信息

Laboratoire de biologie de la reproduction, hôpital de la Conception, Marseille.

出版信息

Rev Prat. 1993 Apr 15;43(8):960-4.

PMID:8341978
Abstract

Cytogenetic investigations in sterile males showed that autosomal and sex chromosome anomalies can be responsible of the defect of spermatogenesis. Specific alteration of genes controlling spermatogenesis is excluded because all chromosomes are involved in the anomaly and breakpoints are distributed at random. In the aim to explain the spermatogenic failure, three mechanisms are proposed: X-autosome interaction, asynapsis, somatic lesion of the gonad, each mechanism might act alone or with the other. Beside chromosomal infertility, meiotic or sperm anomalies suggest the presence of gene mutations which interfere with the evolution of spermatogenesis or lead to the formation of abnormal spermatozoa. Insertion of technics of molecular biology in our researches could demonstrate the existence of these mutations; the same technics will allow to resolve the problem of the failure of a germ cell bearing a chromosomal anomaly particularly when this anomaly is balanced and involves the autosomes and not the sex chromosomes.

摘要

对不育男性的细胞遗传学研究表明,常染色体和性染色体异常可能是精子发生缺陷的原因。由于所有染色体都参与异常且断点随机分布,因此排除了控制精子发生的基因的特定改变。为了解释精子发生失败,提出了三种机制:X-常染色体相互作用、联会异常、性腺的体细胞损伤,每种机制可能单独起作用或与其他机制共同起作用。除了染色体不育外,减数分裂或精子异常表明存在基因突变,这些突变会干扰精子发生的进程或导致异常精子的形成。在我们的研究中引入分子生物学技术可以证明这些突变的存在;同样的技术将有助于解决携带染色体异常的生殖细胞失败的问题,特别是当这种异常是平衡的且涉及常染色体而非性染色体时。

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