男性不育患者Y染色体AZF微缺失与染色体异常研究  

Study on microdeletions of AZF genes and chromosomal abnormalities in infertile men

作　　者：李东明[1] 周晖登[1] 黄战[1] 颜维军 胡雪桦[1] 

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国优生与遗传杂志》2015年第6期36-37,115,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨男性不育患者Y染色体AZF微缺失、染色体异常情况及其临床表现。方法对1463不育男性患者采用多重聚合酶链反应结合琼脂糖凝胶电泳检测Y染色体AZF15个位点,分析外周血染色体核型。结果不育患者中AZF缺失检出率为8.13%(119/1463),以AZFc(7.22%)缺失最为常见。AZFbc和AZFabc缺失表现为无精子,AZFa和AZFc缺失可表现为无精子或严重少精子,仅AZFc缺失可表现为少精子。染色体异常检出率为14.21%(130/915),以47,XXX(50%)为主。染色体异常主要表现为无精子(27.46,95/346)和严重少精子(5.90,21/356),染色体异常合并AZF缺失率为14.21%(130/915)。结论 Y染色体AZF微缺失和染色体异常与男性不育密切相关,有必要对不育男性患者相关遗传学检查。Objective： To investigate the clinical manifestation of the prevalence of chromosomal abnormalities and Y chromosome microdeletions in infertile men. Methods： A total of 1463 infertile men were screened for Y chromosome microdeletions by multiple-PCR and agarosegel electrophoresis, and 915 of them were studied for cytogenetic evaluation. Results： The prevalence of AZF microdeletions in infertile men was 8.13%, and the most microdeletions of them were in the AZFc （7.22%） . AZFbc and AZFabc deletions had azoospermia, whereas patients with an AZFa and AZFb deletions had azoospermia or oligozoospermic, however patients with an AZFc had low levels of sperm. The frequency of chromosomal abnormalities in infertile men was 14.21%, Most chromosome was 47,XXX. Chromosomal abnormalities had azoospermia or oligozoospermic. The frequency of both was 14.21%. Conclusion： The results revealed a close relationship between chromosomal abnormalities, AZF microdeletions and spermatogenesis. Therefore, it is important to performe genes screening in infertile patients.

关 键 词：男性不育 Y染色体微缺失 无精子因子 

分 类 号：R698.2[医药卫生—泌尿科学]