Wojda A, Korcz A, Jedrzejczak P, Kotecki M, Pawelczyk L, Latos-Bieleńska A, Wolnik-Brzozowska D, Jaruzelska J
Zakład Genetyki Człowieka PAN, Poznań.
Ginekol Pol. 2001 Nov;72(11):847-53.
The karyotypic analysis was performed to assess the importance of genetic factor in male infertility. For that purpose, chromosomal analysis in blood lymphocytes was performed in 28 males, candidates for ICSI with azoospermia or severe oligozoospermia and in their spouses. Although chromosomal aberrations were identified in as many as 11 couples, (in 6 couples aberrations were identified in male, in 4 other couples in female partner, whereas in 1 one couple they were detected in both partners) their risk for potential offspring is unequal. Balanced autosomal aberrations detected in two males (7%) constitute a high risk since they can cause not only infertility but also severe somatic abnormalities if transferred as the unbalanced ones to the next generation. The remaining 9 chromosomal aberrations identified in this study were present in mosaic additional cell lines with low representation. In 8 of them sex chromosomes and in 1 an autosom were involved. Although these mosaic chromosomal aberrations can lower efficiency of in vitro fertilisation, the probability that they can be transferred to the next generation causing somatic abnormalities is not high. This study indicates that in case of azoospermia or severe oligozoospermia, the karyotypic analysis should be performed in both partners prior to in vitro fertilisation.
进行核型分析以评估遗传因素在男性不育症中的重要性。为此,对28名患有无精子症或严重少精子症且准备接受卵胞浆内单精子注射(ICSI)的男性及其配偶进行了血液淋巴细胞染色体分析。尽管在多达11对夫妇中发现了染色体畸变(6对夫妇中男方存在畸变,4对夫妇中女方存在畸变,1对夫妇双方均存在畸变),但他们对潜在后代的风险并不相同。在两名男性(7%)中检测到的平衡常染色体畸变构成高风险,因为如果以不平衡的形式传递给下一代,不仅会导致不育,还会引起严重的躯体异常。本研究中发现的其余9种染色体畸变存在于低比例的嵌合额外细胞系中。其中8种涉及性染色体,1种涉及常染色体。尽管这些嵌合染色体畸变会降低体外受精的效率,但它们传递给下一代导致躯体异常的可能性并不高。本研究表明,对于无精子症或严重少精子症患者,在体外受精前应同时对夫妇双方进行核型分析。