中国男性不育患者染色体核型及Y染色体微缺失分析  

Analysis of chromosomal abnormality and Y chromosome microdeletions in Chinese infertile men

作　　者：胡七一[1] 费前进[2] 蔡健[1] 翁志梁[1] 林礼彰[1] 黄学锋[2] 李澄棣[1] 

机构地区：[1]温州医学院附属第一医院泌尿外科,325000 [2]温州医学院附属第一医院生殖中心,325000

出　　处：《中华泌尿外科杂志》2011年第3期160-163,共4页Chinese Journal of Urology

摘　　要：目的探讨男性不育症与染色体畸变及Y染色体微缺失之间的关系。方法临床诊断男性不育患者1975例，采集外周血淋巴细胞常规培养，Giemsa染色，镜下观察并分析染色体核型；选取Y染色体特异性序列标签点（sTs），应用PCR技术对无精子症及少精子症患者进行Y染色体微缺失检测。结果1975例患者中，染色体核型异常305例（15．44％），其中常染色体异常101例（5．11％），患者主要表现为少精子症、畸形精子症；性染色体异常204例（10．33％），主要表现以克氏征（5．62Voo）为主。728例无精子症或少精子症患者中，Y染色体微缺失109例（14．97％），其中AZFa区缺失3例（2．75％），均表现为无精子症；AZFb区缺失5例（4．59％），表现为无精子症2例、严重少精子症2例，精液正常l例；AZFc区缺失者68例（62．39％），患者主要表现为无精子症和严重少精子症；AZFa区和AZFc区均缺失者5例（4．59％），均表现为无精子症；AZFb区和AZFc区均缺失者15例（13．76％），患者以无精子症表现为主；AZFa区、AZFb区和AZFc区均缺失者6例（5．50％），均表现为无精子症。结论染色体异常及Y染色体微缺失均为男性不育的重要病因。Objective To study the relationship between chromosomal abnormality and Y chro mosome microdeletions and male infertility. Methods Lymphocytes were cultured from peripheral blood of 1975 male infertility patients and stained with Giemsa. The chromosomes were analyzed under microscope. Y chromosome specific sequence tags （STS） were selected, then the Y chromosome mi crodeletions in AZF regions were screened by polymerase chain reaction （PCR） in azoospermia and oli- gozoospermia patients. Results There were 305 cases of detected chromosomal abnormalities （15.44%） in the 1975 cases. There were 101 cases （5. 11%） with autosome abnormalities which clin- ically manifested as oligozoospermia and teratospermia. There were 204 cases （10. 33%） of sexual chromosome abnormalities and the patients were mainly characterized with Klinefelter＇s syndrome. Y chromosome microdeletions were detected in 109 （14.970%） of the 728 cases of azoospermia or oligozoospermia. The most common microdeletion of Y chromosome was AZFc （62.39%） and these patients were characterized with azoospermia and oligozoospermia. Five patients （4. 59%） who suffered Y chromosome microdeletion in AZFa region and AZFb region were characterized with azoospermia. Fifteen cases （13.76%） with microdeletion in AZFb region and AZFc region were mainly characterized with azoospermia. There were 6 cases （5. 50%） of microdeletion in AZFa, AZFb and AZFc regions, these patients were all characterized with azoospermia. Conclusions Both Chromosome abnormalities and Y chromosome microdeletions are important causes for male infertility.

关 键 词：不育 男性 染色体障碍 Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]