10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case report
10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case report
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DOI：
10.1093/humrep/deg460
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发表时间：
2003-11-01
影响因子：
6.1
通讯作者：
Piomboni, P
中科院分区：
文献类型：
--
作者：
Baccetti, B;Bruni, E;Piomboni, P
背景：描述了一个不育男性杂合平衡易位的特殊精子缺陷（10;15）（q26;q12）。由于这种结构重组在父母中不存在，因此在本例患者中移位一定是从头出现的。方法：在光镜和透射电镜下对精子进行分析。对淋巴细胞核型进行荧光原位杂交（FISH）。使用三色FISH研究了精子核中不参与易位的18、X和Y染色体的非整倍体频率。双色FISH用于评价去致密精子核中10、15号染色体的分离。此外，为了区分平衡配子和不平衡配子，对染色体10、15使用端粒探针进行了三色FISH。结果和结论：总体而言，结构特征表明生发细胞普遍不成熟。FISH精子分析检测到18号染色体二体增加（0.81%），提示染色体间效应。二倍体的频率较高，特别是18,18,x，X和18,18,x，Y。10、15号染色体的FISH分离分析表明，32.8%为平衡配子，68.2%为不平衡配子。总之，这些数据表明，在男性易位携带者中（10;15）存在弥漫性精子超微结构改变和精子非整倍体的高频率。提出了这些因素之间存在相关性。
Background: Peculiar sperm defects are described in a sterile man heterozygous for a balanced translocation t(10;15) (q26;q12). As this structural reorganization was absent in the parents, the translocation must have appeared de novo in the present patient. Methods: Spermatozoa were analysed under light and transmission electron microscopy (TEM). Fluorescence in-situ hybridization (FISH) was performed on the lymphocyte karyotype. Aneuploidy frequencies of chromosomes 18, X and Y in sperm nuclei, not involved in the translocation, were investigated using three-colour FISH. Dual- colour FISH was used to evaluate segregation of chromosomes 10, 15 in decondensed sperm nuclei. Moreover, three-colour FISH, using telomeric probes for chromosomes 10, 15 was performed in order to distinguish balanced and unbalanced gametes. Results and Conclusions: Overall, structural characteristics indicate general immaturity of the germinal cells. FISH sperm analysis detected an increase in chromosome 18 disomy (0.81%) suggesting an interchromosomal effect. A high frequency of diploidies, particularly 18,18,X,X and 18,18,X,Y, was also found. FISH segregation analysis for chromosomes 10, 15 indicated that 32.8% were balanced gametes, whereas 68.2% were unbalanced. Taken together, these data demonstrate in a male carrier of a reciprocal translocation t(10;15) the presence of diffuse ultrastructural sperm alterations and a high frequency of sperm aneuploidies. The existence of a correlation among these factors is proposed.