摘要
目的:对无精症和少精子症患者进行外周血染色体及Y染色体微缺失检测,探讨生精功能障碍的遗传学机制,为临床治疗和遗传咨询提供参考。方法:运用细胞遗传学核型分析技术和多重PCR技术对133例生精功能障碍患者进行染色体核型分析和Y染色体AZF因子扩增,并以40例已生育男性作为对照组。结果:实验组中61例无精子症患者中,细胞遗传学核型数量异常13例,异常发生率21.31%,同时发现AZF微缺失6例,异常发生率9.84%;72例少精患者细胞遗传学核型异常11例,异常发生率15.28%,同时发现AZF微缺失7例,异常发生率9.72%。40例对照组Y染色体核型和AZF位点无缺失。结论:染色体异常和AZF的缺失是引起男性无精子和少精子并造成男性不育的重要原因之一,对男性不育人群进行细胞遗传学核型分析和AZF检测十分必要。
Objective：To carry out chromosome and Y chromosome microdeletion test in peripheral blood of patients with azoospermia and oligozoospermia,explore genetic mechanism of spermatogenic arrest,provide a reference for clinical treatment and genetic consultation. Methods：Cytogenetic karyotype analysis technique and multiplex polymerase chain reaction（PCR） technique were used for chromosomal karyotype analysis and azoospermia factor（AZF） amplification of Y chromosome among 133 patients with spermatogenic arrest,40 men with children were selected as control group. Results：Among 61 patients with azoospermia in experimental group,13 patients were found with abnormal chromosomal number,the incidence was 21.31%;6 patients were found with AZF microdeletion,the incidence was 9.84%.Among 72 patients with oligozoospermia in experimental group,11 patients were found with abnormal chromosomal number,the incidence was 15.28%,7 patients were found with AZF microdeletion,the incidence was 9.72%.Among 40 patients in control group,no abnormal chromosomal number and AZF microdeletion occurred. Conclusion：Chromosomal abnormality and Y chromosome microdeletion are important causes of male azoospermia,oligozoospermia and male infertility,it is necessary to carry out cytogenetic karyotype analysis and AZF test among male infertile population.
出处
《中国妇幼保健》
CAS
北大核心
2011年第30期4748-4750,共3页
Maternal and Child Health Care of China
基金
福建省自然科学基金资助项目〔2010J01114〕
福建省卫生厅青年科研基金资助项目〔2008-1-12〕
福建省卫生厅青年科研资助项目〔2010-1-28〕
关键词
无精子症
少精子症
核型分析
无精子因子
Azoospermia
Oligozoospermia
Karyotype analysis
Azoospermia factor
