无精子症患者Y染色体微缺失及细胞遗传学研究

目的探讨导致男性无精子症的遗传学原因。方法收集132例无精症患者和60例精液参数正常生育男性的外周血，通过多重PCR技术进行Y染色体微缺失的分子遗传学检测，同时采用外周血淋巴细胞培养G显带方法进行细胞遗传学分析。结果132例无精症患者中，11例Y染色体微缺失，微缺失的发生率为8.33％（11／132）；细胞遗传学研究检测到21例染色体核型异常，异常核型频率为15.91％（21／132）。与精液正常组比较均有统计学差异（P〈0.05）。结论无精子症患者染色体核型异常及Y染色体微缺失的发生率较高，Y染色体微缺失及细胞遗传学检测可为不育患者提供治疗前的遗传咨询，避免遗传缺陷垂直传递给后代。

The study on Y chromosomal microdeletion and cytogenetic in patients with azoospermia

Objective： Discussing the genetic causes of azoospermatism. Methods： Through multiple PCR and cytogenetic technology, we investigate the type and frequency of Y chromosomal microdeletion and the chromosome abnormality on 132 cases of azoospermia patients and 60 cases of normal reproductive males. Results： In 132 patients with azoospermia, 11 cases of Y chromosomal microdeletion were found and the incidence of microdeletion was 8.33% （11/132） . 21 cases of abnormal chromosome karyotype were found, the incidence of abnormal karyotype was 15.91% （21/132） . Comparing with normal semen group were statistically significant （P 〈 0.01 ） . Conclusion： The Y chromosome microdeletion and abnormal karotype have a high incidence in patients with azoospermia. The test of Y chromosome microdeletion and karotype can provide of genetic counseling for infertility patients before treatment, and avoiding genetic defects vertically transmitted to future generation.