对正常精子男性的精子非整倍体进行综合染色体 FISH 评估。
Comprehensive chromosome FISH assessment of sperm aneuploidy in normozoospermic males.
机构信息
Shanghai Ji Ai Genetics & IVF Institute, Shanghai, 200011, China.
Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
出版信息
J Assist Reprod Genet. 2022 Aug;39(8):1887-1900. doi: 10.1007/s10815-022-02536-7. Epub 2022 Jun 22.
PURPOSE
Sperm chromosomal abnormalities impact male fertility and pregnancy outcomes. However, the proportion of sperm with chromosomal abnormalities in normozoospermic men remains unclear. Herein, we evaluated sperm aneuploidy for 23 chromosomes to elucidate its incidence in normozoospermic men.
METHODS
Sperm from ten normozoospermic donors were obtained from a human sperm bank and analyzed using fluorescence in situ hybridization. The frequencies of nullisomy, disomy, and diploidy were analyzed along with trisomy, triploidy, tetraploidy, and other numerical abnormalities per chromosome and per donor levels.
RESULTS
A total of 248,811 sperm cells were analyzed (average: 24,881 ± 381 cells/donor), of which 246, 658 were haploid, 818 nullisomic, 393 disomic, 894 diploid, 13 triploid, 8 tetraploid, 3 trisomic, and 24 harbored multiple aneuploidies. Among the 22 autosomal and 2 sex chromosomes, the mean frequency of aneuploidy per chromosome was 0.49 ± 0.16%, including 0.33 ± 0.16% for nullisomy and 0.16 ± 0.08% for disomy. The mean frequencies of nullisomy, disomy, and aneuploidy per donor were 0.33 ± 0.13%, 0.16 ± 0.05%, and 0.49 ± 0.13%, respectively. The total frequencies of nullisomy, disomy, diploidy, and aneuploidy per donor were 7.62 ± 3.06%, 3.63 ± 1.12%, 0.36 ± 0.15%, and 11.25 ± 3.05%, respectively.
CONCLUSIONS
The dominant chromosome numerical abnormalities in normozoospermic men are nullisomy, disomy, and diploidy. Generally, the frequency of nullisomy is higher than that of disomy. The disomy or nullisomy frequencies for each chromosome being gained or lost were not unified and varied; some chromosomes (e.g., chromosomes 21 and 22 and sex chromosomes) are more prone to disomy while some others (e.g., chromosome 3) are more prone to nullisomy.
目的
精子染色体异常会影响男性生育能力和妊娠结局。然而，正常精子中染色体异常的比例尚不清楚。本研究通过分析 23 条染色体的非整倍体，阐明正常精子中染色体异常的发生率。
方法
从人类精子库中获得 10 名正常精子供体的精子，并使用荧光原位杂交进行分析。分析了每个供体和每条染色体的三体、三倍体、四倍体和其他数目异常的整倍体、单体、双体和三体的频率。
结果
共分析了 248811 个精子细胞（平均每个供体 24881 ± 381 个细胞），其中 246658 个为单倍体，818 个为单体，393 个为双体，894 个为双体，13 个为三体，8 个为四倍体，3 个为三体，24 个为多倍体。在 22 条常染色体和 2 条性染色体中，每条染色体的非整倍体平均频率为 0.49 ± 0.16%，包括单体的 0.33 ± 0.16%和双体的 0.16 ± 0.08%。每个供体的单体、双体和非整倍体的平均频率分别为 0.33 ± 0.13%、0.16 ± 0.05%和 0.49 ± 0.13%。每个供体的单体、双体、双体和非整倍体的总频率分别为 7.62 ± 3.06%、3.63 ± 1.12%、0.36 ± 0.15%和 11.25 ± 3.05%。
结论
正常精子中主要的染色体数目异常为单体、双体和双体。一般来说，单体的频率高于双体。获得或丢失的每条染色体的双体或单体频率并不统一且有所差异；一些染色体（如 21 号和 22 号染色体及性染色体）更易发生双体，而另一些染色体（如 3 号染色体）更易发生单体。
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