摘要
目的对208例男性不育患者进行遗传学分析,探讨染色体畸变、Y染色体微小缺失与男性不育的关系。方法采用外周血染色体核型分析技术对208例男性不育患者进行染色体核型分析,再利用改良多重PCR技术对染色体核型正常患者进行Y染色体AZF区域检测。结果 208例男性不育患者中,发现染色体异常者36例,占17.31%;Y染色体微小缺失者6例,占2.88%。结论染色体畸变及Y染色体微小缺失与男性不育关系紧密,染色体核型分析技术与Y染色体AZF检测技术相结合可提高男性不育患者的诊断水平与遗传异常检出率。
Objective：To analyse the 208 male infertile patients in genetics and explore the relationship between chromosomal abnormalities and Y chromosome microdeletions in male infertile patients.Methods：Karyotypic anlaysis and multiplicitas PCR were carried out in 208 male infertile patients for chromosome karyotype and the analysis of AZF in Y chromosome.Results：Of the 208 patients,36（17.31%）were found to have chromosome abnormalities and 8（3.84%）were found to have Y chromosome microdeletions.Conclusion：The chromosomal abnormalities and Y chromosome microdeletions may play an important role in male infertility,suggesting the importance of examinations of chromosomal abnormalities and Y chromosome microdeletions in diagnosis and genetic screening of such patients.
出处
《中国优生与遗传杂志》
2011年第3期34-36,共3页
Chinese Journal of Birth Health & Heredity
基金
全军"十一五"课题(06MB074)
关键词
男性不育
染色体
异常核型
微小缺失
Male infertility
Chromosome
Abnormal karyotype
Chromosome microdeletion
