Nudell D M, Turek P J
Department of Urology, University of California, San Francisco, 533 Parnassus Ave., Room U575, San Francisco, CA 94143, USA.
Curr Urol Rep. 2000 Dec;1(4):273-81. doi: 10.1007/s11934-000-0007-3.
Infertile men with severe spermatogenic defects and low or no sperm counts have a significantly higher rate of genetic abnormalities than fertile men. The fact that intracytoplasmic sperm injection can potentially bypass natural selection barriers to genetic disease transmission has brought a sobering but important impetus to recent research in the area of genetic infertility. Recent studies have focused on examining the prevalence of certain genetic defects in infertile men, analyzing the molecular basis of infertility in genetic disorders, and detecting new causes of genetic infertility. Several novel research findings deserve mention for their potential impact on genetic infertility. It has been demonstrated that elongated and round spermatids can be successfully injected into human oocytes and viable births obtained. Likewise, significant advances have been made in the arena of interspecies germ cell transplantation. Of some concern is the finding of a relationship between faulty DNA repair and infertility in men with severe testis failure. This review summarizes the recent genetic advances in these areas of male genetic infertility.
患有严重生精缺陷且精子数量少或无精子的不育男性，其遗传异常发生率显著高于生育男性。胞浆内单精子注射有可能绕过遗传疾病传播的自然选择障碍，这一事实为近期遗传不育领域的研究带来了令人警醒但重要的推动。近期研究集中于检查不育男性中某些遗传缺陷的患病率、分析遗传性疾病中不育的分子基础以及检测遗传不育的新病因。有几项新的研究发现因其对遗传不育的潜在影响值得一提。已证明长形和圆形精子细胞可成功注入人类卵母细胞并获得活产。同样，种间生殖细胞移植领域也取得了重大进展。令人有些担忧的是，在严重睾丸功能衰竭的男性中发现了DNA修复缺陷与不育之间的关系。本综述总结了男性遗传不育这些领域的近期遗传学进展。
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