特发性无精子症及少弱精子症患者Y染色体AZF微缺失筛查分析

目的探讨特发性无精子症及少弱精子症不育男性与Y染色体AZF微缺失的关系.方法用双重PCR技术对63例患者(无精于症41例,少弱精子症14例,严重少精子症8例)进行Y染色体AZFa、AZFb、AZFc、SRY的微缺失筛查.同时对26例无精于症患者行睾丸活检、组织学评估.结果63例中AZF微缺失7例,缺失率为11.1%.其中无精子症5例,严重少精子症2例.AZFc缺失4例,AZFb缺失2例,AZFb AZFc缺失1例,未发现AZFa区缺失.63例及对照组30例SRY基因扩增均阳性.26例无精子症患者行睾丸活检、组织学检查,无1例精子发生正常.结论Y染色体微缺失,特别是AZFc区DAZ基因的微缺失,是引起无精子和严重少弱精子等生精障碍而致男性不育较为重要的遗传学因素.

Screening of the microdeletion in the Y chromsome azoospermia factor region analysis of 63 cases idiopathic oligoastheno teratozoospermia or azoospermia

Objective: To assess the relationships between idiopathic oligoasthenoteratozoospermia or azoospermia and microdeletions in the Y chromosome AZF region. Methods: AZFa?AZFb?AZFc?SRY gene in the Y chromosome were screened by means of double PCR in 63 oligoasthenoteratozoospermia or azoospermia, including 41 azoospermia, 8 severe oligospermia,14 oligospermia. Meanwhile testicular biopsy and histological evaluation were performed in 26 azoospermia. Result: AZF microdeletion in the genomic DNA were observed in 7 of 63 cases. 5 being in men with azoospermia, 2 in severe oligospermia. Microdeletion were observed in 4 of AZFc, 2 of AZFb and 1 of AZFb AZFc. none of AZFa. The total deletion rate was 11.1%. SRY gene existed amplified band in 63 cases and positive control. No case of normal spermatogenesis was found in histological assessment of testicular biopsy of 26 azoospermia. Conclusion: Microdeletion of Y chromosome, especially the microdeletion of DAZ gene in AZFc region, is an important genetic reason of male infertility due to azoospermia and oligozoospermia.