Guichaoua M R, Delafontaine D, Noël B, Luciani J M
Laboratoire de biologie, du développement et de la reproduction, Faculté de médecine, Marseille.
Contracept Fertil Sex. 1993 Feb;21(2):113-21.
Cytogenetic studies in infertile men showed that chromosomal anomalies were more frequent in these patients than in general population. Sex chromosome anomalies, specially 47, XYY karyotype, are predominant by their frequency at the severity of testicular impair. Nevertheless, balanced autosomal rearrangements can also induce spermatogenic failure; they were of great interest in perfecting the hypothesis which try to explain germ cells atresia. Three mechanisms are proposed: --X-autosome interaction; --synaptic failure; both could lead to a metabolic disorder and death of the germ cell; --somatic lesions of the gonad could also induce this degenerative process. Techniques of molecular biology joined up to cytogenetic investigations of meiosis will lead to a better understanding of the chromosomal male sterility.
对不育男性的细胞遗传学研究表明,这些患者中染色体异常的发生率高于普通人群。性染色体异常,特别是47,XYY核型,因其在睾丸损害严重程度方面的出现频率而占主导地位。然而,常染色体平衡重排也可导致生精障碍;它们对于完善试图解释生殖细胞闭锁的假说具有重要意义。提出了三种机制:——X染色体与常染色体相互作用;——联会失败;两者均可导致代谢紊乱和生殖细胞死亡;——性腺的体细胞病变也可引发这一退化过程。分子生物学技术与减数分裂的细胞遗传学研究相结合,将有助于更好地理解染色体性男性不育。