论文部分内容阅读
目的探讨非梗阻性无精子症和严重少精子症患者的细胞与分子遗传学特点。方法应用染色体核型分析、Y染色体微缺失检测和荧光原位杂交(FISH)、PCR等技术对非梗阻性无精子症(n=291)和严重少精子症患者(n=133)男性不育患者(共424例)进行细胞和分子遗传学检测。结果424例患者中有98例明确为遗传异常引起的,其中66例检测到染色体畸变,44例Y染色体微缺失检测见缺失,12例患者染色体核型和微缺失检测均见异常。部分AZF缺失患者精液或睾丸中有精子,但其生精功能呈进行性下降的特点。结论男性不育最常见的遗传学病因为K linefelter综合征和Y染色体AZFc缺失。Y染色体微缺失检测对Y染色体长臂异染色质区缺失是否为多态性具有明确诊断的作用。细胞与分子遗传学检测为男性不育的诊断、治疗和预后以及ICSI治疗前遗传咨询提供重要依据。
Objective To investigate the cellular and molecular genetic features of non-obstructive azoospermia and severe oligospermia. Methods The male infertility patients with non-obstructive azoospermia (n = 291) and severe oligospermia (n = 133) were analyzed by chromosomal karyotyping, Y chromosome microdeletion detection and fluorescence in situ hybridization (FISH) Patients (424 in total) underwent cellular and molecular genetic testing. Results Of the 424 patients, 98 cases were clearly caused by genetic abnormalities. Among them, 66 cases detected chromosomal aberrations, 44 cases showed missing Y chromosome microdeletions, and 12 cases showed abnormalities in chromosomal karyotypes and microdeletions. Some AZF missing patients with sperm or testicular sperm, but its spermatogenic function showed a progressive decline in the characteristics. Conclusion The most common genetic causes of male infertility are K linefelter syndrome and Y chromosome AZFc deletion. Y chromosome microdeletion detection of Y chromosome long arm heterochromatin region polymorphism is a clear diagnosis of the role. Cell and molecular genetic testing for the diagnosis, treatment and prognosis of male infertility and provide an important basis for genetic counseling before ICSI treatment.