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首页> 外文期刊>African Journal of Biotechnology >Analysis of sex chromosomal constitution in sperm from a 47, XYY/46, XY male by using fluorescence in situ hybridization (FISH)
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Analysis of sex chromosomal constitution in sperm from a 47, XYY/46, XY male by using fluorescence in situ hybridization (FISH)

机译：使用荧光原位杂交（FISH）分析47位XYY / 46位XY男性精子中的性染色体组成

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This study was carried out to analyze sex chromosomal constitution in sperm from a 46, XY [60%] / 47, XYY [40] karyotype male and to evaluate the risks of his reproductive genetics. Sperm samples harvested from the mosaic karyotype patient and four healthy male (control group) were assessed using duel-color (specific centremeric probes for X and Y chromosome) fluorescence?in situhybridization (FISH) studies. Sex chromosome numerical abnormalities were observed. The ratio of the X-bearing sperm between Y-bearing sperm in both patient and controls was closel to 1:1. The incidence of sex chromosome abnormal combinations (YY, XY and XX) were significantly increased in the patient’s semen sample compared with normal control (0.466 versus 0.10%, p<0.0001; 0.39 versus 0.21%, p<0.001; 1.16 versus 0.09%, p<0.0001, respectively). High risks of chromosome numerical abnormalities of the patient’s offspring and miscarriage rate were suggested from the study. FISH analysis has the potential merits to evaluate the rate of sex chromosome numerical abnormalities on spermatozoa for these karyotyped abnormal patients. Prenatal and genetic diagnoses (PGD) are recommended to increase the likelihood of a successful pregnancy.
机译：这项研究的目的是分析46例XY [60％] / 47例[XY] [40]染色体核型男性的精子中性染色体的组成，并评估其生殖遗传学的风险。在原位杂交（FISH）研究中，使用双色（针对X和Y染色体的特定中心探针）荧光对从镶嵌核型患者和四名健康男性（对照组）收获的精子样本进行评估。观察到性染色体数字异常。在患者和对照组中，含X精子与含Y精子的比率接近于1：1。与正常对照组相比，患者精液中性染色体异常组合（YY，XY和XX）的发生率显着增加（0.466对0.10％，p <0.0001; 0.39对0.21％，p <0.001; 1.16对0.09％， p <0.0001）。该研究提示，患者后代的染色体数字异常和流产率高的风险。 FISH分析具有潜在优势，可以评估这些核型异常患者精子上性染色体数字异常的发生率。建议进行产前和遗传学诊断（PGD），以增加成功怀孕的可能性。

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