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[精子的染色体异常]

[Chromosome abnormalities of spermatozoa].

作者信息

Rives N, Mousset-Siméon N, Sibert L, Duchesne V, Macé L, Milazzo J-P, Mazurier S, Macé B

机构信息

Laboratoire de biologie de la reproduction, CHU Charles-Nicolle, 76031 Rouen, France.

出版信息

Gynecol Obstet Fertil. 2004 Sep;32(9):771-8. doi: 10.1016/j.gyobfe.2004.07.005.

Abstract

Chromosome meiotic pairing during male meiosis is a major event for chromosome segregation during anaphase I and spermatogenesis normal process. Chromosome non-disjunctions responsible for aneuploidy in male gametes can be observed during the first and the second meiotic divisions. The analysis of sperm nuclei chromosome constitution is a major and indirect tool for assessing male meiotic non-disjunctions and the genesis of chromosomal abnormalities. This evaluation has been performed initially by the human sperm/hamster oocyte fusion assay and more recently by fluorescence in situ hybridisation (FISH). Therefore, male populations with increased risk of aneuploidy for their progeny could be identified before entering an in vitro fertilization procedure, and depending on the potential risk a preimplantation or prenatal genetic diagnosis could be performed. For males with constitutional chromosome abnormalities, a specific genetic counselling could also be proposed.

摘要

雄性减数分裂过程中的染色体减数分裂配对是后期I染色体分离和精子发生正常过程中的一个主要事件。在第一次和第二次减数分裂过程中,可以观察到导致雄配子非整倍体的染色体不分离现象。精子细胞核染色体组成分析是评估雄性减数分裂不分离和染色体异常发生的一种主要间接工具。这种评估最初是通过人类精子/仓鼠卵母细胞融合试验进行的,最近则通过荧光原位杂交(FISH)进行。因此,在进入体外受精程序之前,可以识别出其后代非整倍体风险增加的男性群体,并根据潜在风险进行植入前或产前基因诊断。对于患有先天性染色体异常的男性,也可以提供特定的遗传咨询。

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