中国男性不育患者染色体核型及Y染色体微缺失分析

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(5.62%)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1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.

Abstract：

Objective To study the relationship between chromosomal abnormality and Y chromosome 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 microdeletions in AZF regions were screened by polymerase chain reaction (PCR) in azoospermia and oligozoospermia 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 clinically 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 (14.97 %) 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.

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

Objective To study the relationship between chromosomal abnormality and Y chromosome 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 microdeletions in AZF regions were screened by polymerase chain reaction (PCR) in azoospermia and oligozoospermia 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 clinically 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 (14.97 %) 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.