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基于细胞遗传学分析和精子穿透试验的已婚夫妇特发性不孕研究

Idiopathic infertility in married couples in the light of cytogenetic analysis and sperm penetration assay.

作者信息

Wiland E, Wojda A, Kamieniczna M, Latos-Bieleńska A, Jedrzejczak P, Kurpisz M

机构信息

Institute of Human Genetics, Polish Academy of Sciences, Poznań.

出版信息

Folia Histochem Cytobiol. 2001;39(1):35-41.

Abstract

We have selected 47 couples with unexplained infertility in order to analyse a possible link between sperm dysfunction studied in males in in vitro conditions and karyotype analysis of somatic cells. In order to identify so called "idiopathically infertile" couples we had to exclude any change in reproductive organs in both partners or in spermiogram which would qualify any of spouses into known category of infertility. We have revealed chromosome aberrations (translocations and marker chromosomes) in 19% of infertile males and in 6% of infertile females. Idiopathically infertile males had an overall decreased ability of sperm function (measured by proportion of penetrated hamster oocytes by human sperm) in comparison to fertile controls, however, still well placed within physiological range of values. Only sperm from a patient with identified translocation was clearly below the normal level of penetration (20% of penetrated oocytes), however, also the patients with revealed chromosome variant polymorphisms presented statistically lower values of penetration in comparison to fertile controls (39% vs 57%, p<0.05). On the contrary, patients with marker chromosomes did not exhibit affected sperm function. It can be speculated that only particular chromosome aberration in group of idiopathically infertile males may affect sperm functional capability (measured in vitro), however, the intragonadal genetic analysis has to be recommended in order to confirm such a causative link.

摘要

我们选取了47对不明原因不孕症夫妇,以分析体外条件下男性精子功能障碍与体细胞染色体核型分析之间可能存在的联系。为了确定所谓的“特发性不孕”夫妇,我们必须排除双方生殖器官或精液分析中的任何变化,这些变化会使任何一方配偶符合已知的不孕类别。我们在19%的不孕男性和6%的不孕女性中发现了染色体畸变(易位和标记染色体)。与可育对照组相比,特发性不孕男性的精子功能总体能力下降(通过人类精子穿透仓鼠卵母细胞的比例来衡量),不过仍处于生理值范围内。只有一名已确定易位的患者的精子穿透率明显低于正常水平(20%的卵母细胞被穿透),然而,与可育对照组相比,已发现染色体变异多态性的患者的穿透率也在统计学上较低(39%对57%,p<0.05)。相反,有标记染色体的患者未表现出精子功能受影响。可以推测,在特发性不孕男性群体中,只有特定的染色体畸变可能会影响精子功能能力(体外测量),然而,为了证实这种因果关系,建议进行性腺内基因分析。

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