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  

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

作　　者：张新平[1] 张玉兰[1] 程春红[1] 赵丹[1] 惠红霞[1] 

机构地区：[1]哈尔滨医科大学附属二院生殖内分泌中心,黑龙江150086

出　　处：《中国优生与遗传杂志》2004年第2期20-21,27,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 6 3例患者 (无精子症 4 1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 2 6例无精子症患者行睾丸活检、组织学评估。结果　 6 3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。 6 3例及对照组 30例SRY基因扩增均阳性。 2 6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。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.

关 键 词：无精予症 少弱精予症 Y染色体 AZF微缺失 PCR 

分 类 号：R6982[医药卫生—泌尿科学]