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目的:探讨染色体的结构与数目异常,以及位于Y染色体无精子症因子C区(azoospermiafactorC,AZFc)中无精子症缺失基因家族(deleted-in-azoospermia,DAZ)基因拷贝缺失与男性不育的关系。方法:运用染色体G显带、多重PCR与PCR-RFLP检测技术,对210例已生育男性、247例无精子症与206例严重少精子症患者Y染色体AZF区结构进行分析,并对453例患者进行外周血染色体检查。结果:在无精子症与严重少精子症患者中染色体数目与结构异常发生率分别为12.6%与8.3%。所有已生育男性中未检出DAZ基因全部或部分拷贝缺失,而在无精子症与严重少精子症患者中4个DAZ基因拷贝缺失率分别为7.7%和11.2%,DAZ1/DAZ2共缺失率分别为7.3%和4.9%。结论:在中国男性无精子症与严重少精子症患者中存在较高频率的染色体结构/数目异常与DAZ基因拷贝缺失现象,提示染色体结构/数目异常与Y染色体AZFc区DAZ基因拷贝缺失可能是中国男性不育的重要遗传病因。
OBJECTIVE: To investigate the relationship between chromosomal structure and number anomalies, as well as loss of copy gene deletion (DAZ) gene and male infertility in azoospermia factor C (AZFc) region . Methods: The structure of Y chromosome AZF in 210 cases of males, 247 cases of azoospermia and 206 cases of severe oligospermia were analyzed by G-banding, multiplex PCR and PCR-RFLP. 453 patients Peripheral blood chromosome examination. Results: The incidence of chromosome number and structural abnormalities in patients with azoospermia and severe oligospermia were 12.6% and 8.3% respectively. In all fertile men, no copy of DAZ gene was detected in all or part of the cases, while in the patients with azoospermia and severe oligospermia, the copy number loss of four DAZ genes was 7.7% and 11.2%, respectively, and the total missing rate of DAZ1 / DAZ2 7.3% and 4.9%. Conclusion: There is a high frequency of chromosomal structure / number abnormalities and DAZ gene copy deletion in Chinese male patients with azoospermia and severe oligospermia, which suggests that the chromosomal structure / number abnormalities and the copy deletion of DAZ gene in AZFc region of Y chromosome may be in China An important genetic cause of male infertility.