摘要
目的研究染色体异常、SRY基因突变及Y染色体AZF基因微缺失等遗传学病因与男性不育的关系。方法采用染色体G显带对87例男性不育患者进行核型分析,采用PCR技术对患者SRY基因突变及Y染色体AZF基因微缺失进行检测。结果87例男性不育患者中发现染色体异常25例(28.74%);XX男性反转1例(1.15%);AZF微缺失4例(4.60%)。总的遗传学异常检出率为34.48%。结论染色体异常及Y染色体AZF微缺失等是引起男性不育的重要遗传学病因。
Objective: To investigate the relationship between the male infertility and the genetic causes such as chromosomal abnormality, mutation of SRY, AZF mierodeletion. Methods : This study uses the G - banding method to make the karyotype analysis, and uses polymerase chain reaction (PCR) method to detect the mutations of SRY and Y chromosome microdeletions in the infertile male patients. Results: In the total of 87 cases, 25 (28. 74% ) were found to have chromosomal abnormality, 1 ( 1.15% ) had mutation of SRY, 4 (4. 60% ) showed AZF microdeletions. The total genetic abnormality ratio was 34. 48%. Conclusion: Chromosomal abnormality and AZF microdeletion on Y chromosome is the important genetic eanse of male infertility.
出处
《中国优生与遗传杂志》
2010年第3期131-132,共2页
Chinese Journal of Birth Health & Heredity
基金
安徽高校省级自然科学研究项目(编号:KJ2008B069)
关键词
男性不育
无精子症
少精子症
染色体异常
无精症因子
SRY基因
Male infertility
Azoospermia
Oligozoospermia
Chromosomal abnormality
Azoospermia factor
Sex - determining region on the Y chromosome