双色荧光原位杂交检测46,XY/47,XXY少精子症患者精子性染色体

Segregation of Sex Chromosomes in the Spermatozoa of 46,XY/47,XXY Patients with Oligozoospermia by Dual Fluorescence in-situ Hybridization

目的 :观察 1例 4 6 ,XY/ 4 7,XXY少精子症患者精子性染色体分离的情况。 方法 :用双色荧光原位杂交技术对手淫取精液的精子进行X染色体和Y染色体数目检测。 结果 :受检的 10 0个精子中 ,X精子占 4 9% ,Y精子占 4 8% ,无杂交信号的精子占 3%。X精子与Y精子比例与预期值相同约为 1∶1。4 6 ,XY/ 4 7,XXY少精子症患者与正常对照男性所携带XX精子和XY精子频率比较无统计学差异。 结论 :可以用患者本人的精子进行卵细胞胞质内单精子注射以获得妊娠。

Objective: To observe the segregation of sex chromosomes in the spermatozoa of a 46, XY/47, XXY patient with oligozoospermia. Methods: The number of X and Y chromosomes of the ejaculated spermatozoa from the patient with mosaic 46,XY/47,XXY was analysed by X/Y dual fluorescence in-situ hybridization(FISH). Results: Of the 100 spermatozoa analysed, 97 showed either one X chromosome-specific green signal or one Y-chromosome-specific red Y signal in each spermatozoon and only 3 showed no signal. The frequencies of X- and Y-bearing spermatozoa were 49% and 48% respectively. The ratio of X- to Y-bearing spermatozoa was about 1∶1 as expected. There was no statistical difference between the chromosome XX and XY frequencies in each spermatozoon from the patient in comparison with those estimated in the control. Conclusion: The spermatozoa of 46,XX/47,XXY mosaic patients have a normal gonosomal complement, which allows infertility treatment to be carried out by ICSI.