Kirkpatrick Gordon, Ferguson Kyle A, Gao Haijun, Tang Steven, Chow Victor, Yuen Basil Ho, Ma Sai
Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, Canada.
Hum Reprod. 2008 Jul;23(7):1679-83. doi: 10.1093/humrep/den126. Epub 2008 Apr 24.
Abnormal semen parameters in chromosomally normal men are an indicator of an increased risk of sperm aneuploidy. Male carriers of chromosomal rearrangements may also display an increase in sperm aneuploidy for chromosomes not involved in the rearrangement, known as an interchromosomal effect (ICE), and this may be related to the impaired semen parameters of these men.
Aneuploidy was examined in ejaculate sperm from 27 men: 8 carriers of chromosomal rearrangements with severe oligoasthenoteratozoospermia (OAT) or severe teratozoospermia; 10 chromosomally normal men with similarly abnormal semen parameters; and 9 proven fertile men with normal semen parameters. Fluorescence in situ hybridization was used to examine aneuploidy for chromosomes 13, 18, 21, X and Y.
We observed evidence of an ICE in three of the eight carriers of chromosomal rearrangements. However, men who were chromosomally normal but had severe OAT more frequently displayed increased disomy rates. Although autosomal disomy rates were only modestly increased in some of these men, increased XY disomy ranged from slight to extreme (up to a 100-fold increase).
Despite their similar semen parameters, infertile men with normal karyotypes displayed more frequent increases in sperm aneuploidy, particularly involving the sex chromosomes, than infertile men who were carriers of chromosomal rearrangements. The difference in the magnitude and type of sperm aneuploidy between the two infertile groups is likely related to the different causes of infertility.
染色体正常男性的精液参数异常表明精子非整倍体风险增加。染色体重排的男性携带者在未参与重排的染色体上也可能出现精子非整倍体增加，这被称为染色体间效应（ICE），这可能与这些男性精液参数受损有关。
对27名男性射精精子中的非整倍体进行检测：8名染色体重排携带者，伴有严重少弱畸精子症（OAT）或严重畸精子症；10名染色体正常但精液参数同样异常的男性；以及9名精液参数正常且已证实可育的男性。采用荧光原位杂交技术检测13、18、21、X和Y染色体的非整倍体情况。
我们在8名染色体重排携带者中的3名中观察到ICE的证据。然而，染色体正常但患有严重OAT的男性更频繁地出现二体率增加。虽然其中一些男性的常染色体二体率仅略有增加，但XY二体率增加幅度从轻微到极端（高达100倍）不等。
尽管精液参数相似，但核型正常的不育男性比染色体重排携带者不育男性的精子非整倍体增加更为频繁，尤其是涉及性染色体。两个不育组之间精子非整倍体的程度和类型差异可能与不育的不同原因有关。
