1736例男性不育患者染色体核型异常情况及细胞和分子遗传学分析
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摘要
目的了解深圳地区无精子症或严重少精症男性不育患者染色体核型异常和Y染色体无精子症因子(Azoospermia factor,AZF)微缺失情况,为男性不育患者进行辅助生殖技术之前提供遗传筛选依据。方法收集2016年2月～2018年10月来院就诊并确诊为无精子症或严重少精子症男性不育患者1736例,采用淋巴细胞培养G显带法对外周血染色体进行核型分析,采用多重聚合酶链反应(PCR)结合毛细管电泳技术检测Y染色体AZF微缺失。结果 1736例无精子症或严重少精症男性不育患者中检出染色体核型异常的159例,异常率为9.16%,其中染色体数目异常率为59.12%,以47,XXY检出率最高,约32.70%,明显高于其它数目异常类型,差异有统计学意义(χ~2=3.025～11.924,P<0.05);结构异常率为36.48%,以46,X,inv(Y)检出率最高,约11.95%,明显高于其它结构异常类型,差异有统计学意义(χ~2=2.174～7.562,P<0.05);性反转综合征占总异常的4.40%;Y染色体AZF微缺失检出145例,缺失率为8.35%,其中AZFc缺失为最常见的缺失类型,缺失率为73.10%,明显高于其它缺失类型,差异有统计学意义(χ~2=4.9254～116.3152,P<0.05～0.001)。结论染色体核型异常和AZF微缺失在深圳地区无精子症或严重少精症男性不育患者中有一定的检出率,可能是导致男性不育的重要原因。对男性不育患者进行染色体核型和AZF微缺失检测,可为男性不育患者孕前准备提供筛选依据。
Objective:To understand the situation of chromosomal karyotype abnormality and the microdeletion of Azoospermia factor(AZF)on Y chromosome in male infertility patients with Azoospermia or severe oligospermia in shenzhen area,so as to provide genetic screening basis for male infertility patients before assisted reproductive technology. Methods:1736 cases of male infertility with azoospermia or severe oligospermia were collected from February 2016 to October 2018,and The chromosome karyotypes in peripheral blood were analyzed by G banding method and Multiple polymerase chain reaction(PCR)combined with capillary electrophoresis was used to detect AZF microdeletion on Y chromosome. Results:In 1736 cases of male infertility with azoospermia or severe oligospermia,there were 159 cases with chromosomal karyotype abnormality,the abnormal rate was 9.16%. among which the chromosome number abnormality rate was 59.12%,and the highest detection rate was 47,XXY,about 32.70%,significantly higher than other abnormal number types,with a statistically significant difference(χ~2=3.025～11.924,P<0.05). The structural anomaly rate was 36.48%,The detection rate of 46,X,inv(Y)was the highest,about 11.95%,significantly higher than other structural abnormal types,and the difference was statistically significant(χ~2=2.174～7.562). The comprehensive expropriation of sex reversal accounts for 4.40% of the total anomalies;Microdeletion of AZF on Y chromosome was detected in 145 cases,the deletion rate was 8.35%,among which AZFc deletion was the most common deletion type,the deletion rate was 73.10%,significantly higher than other deletion types,and the difference was statistically significant(χ~2=4.9254～116.3152,P<0.05～0.001). Conclusion:Chromosomal karyotype abnormality and AZF microdeletion may be an important cause of male infertility due to high detection rate in male infertility patients with azoospermia or severe oligospermia in shenzhen area. The chromosome karyotype and AZF microdeletion detection of male infertility patients can provide the screening basis for pre-pregnancy preparation of male infertility patients.
Objective:To understand the situation of chromosomal karyotype abnormality and the microdeletion of Azoospermia factor(AZF)on Y chromosome in male infertility patients with Azoospermia or severe oligospermia in shenzhen area,so as to provide genetic screening basis for male infertility patients before assisted reproductive technology. Methods:1736 cases of male infertility with azoospermia or severe oligospermia were collected from February 2016 to October 2018,and The chromosome karyotypes in peripheral blood were analyzed by G banding method and Multiple polymerase chain reaction(PCR)combined with capillary electrophoresis was used to detect AZF microdeletion on Y chromosome. Results:In 1736 cases of male infertility with azoospermia or severe oligospermia,there were 159 cases with chromosomal karyotype abnormality,the abnormal rate was 9.16%. among which the chromosome number abnormality rate was 59.12%,and the highest detection rate was 47,XXY,about 32.70%,significantly higher than other abnormal number types,with a statistically significant difference(χ~2=3.025～11.924,P<0.05). The structural anomaly rate was 36.48%,The detection rate of 46,X,inv(Y)was the highest,about 11.95%,significantly higher than other structural abnormal types,and the difference was statistically significant(χ~2=2.174～7.562). The comprehensive expropriation of sex reversal accounts for 4.40% of the total anomalies;Microdeletion of AZF on Y chromosome was detected in 145 cases,the deletion rate was 8.35%,among which AZFc deletion was the most common deletion type,the deletion rate was 73.10%,significantly higher than other deletion types,and the difference was statistically significant(χ~2=4.9254～116.3152,P<0.05～0.001). Conclusion:Chromosomal karyotype abnormality and AZF microdeletion may be an important cause of male infertility due to high detection rate in male infertility patients with azoospermia or severe oligospermia in shenzhen area. The chromosome karyotype and AZF microdeletion detection of male infertility patients can provide the screening basis for pre-pregnancy preparation of male infertility patients.
引文
[1]徐清华,马振勇,王琳琳,等.1469例不孕不育患者细胞遗传学分析[J].中国优生与遗传杂志,2017,25(5):53-58.
[2]赵婧,黄湘,张艳芳,等.1237例不孕症患者染色体检查结果分析[J].国际检验医学杂志,2016,37(17):2411-2415.
[3]苏京荣,李琳.1226例男性不育患者的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(2):266-268.
[4]杨会林,董晶.严重少精子症及无精子症的遗传学分析[J].中国实验诊断学,2014,18(4):561-564.
[5]World Health Organization.WHO Laboratory Manual for the examination and processing of human semen[M].5th ed.Geneva:World Health Organization,2010:10-56
[6]关立军,胡一珍,高媛,等.邢台地区146例极重度少精子症、无精子症患者遗传学检查数据统计与意义分析[J].中国计划生育和妇产科,2015,7(12):58-62.
[7]王燕,林元,黄海龙,等.特发性不育患者Y染色体AZF微缺失筛查及表型分析[J].中国计划生育杂志,2015,23(12):819-821.
[8]扶梅妹,薛会丽,林娜,等.男性不育患者1540例细胞及分子遗传学分析[J].福建医药杂志,2018,40(3):53-55.
[9]薛会丽,林丹玫,陈雪美,等.189l例男性不育患者的细胞遗传学分析[J].中华医学遗传学杂志,2017,34(5):772-774.
[10]柴蓓蓓,何培,王惠莹,等.1032例男性不育症患者细胞遗传学分析[J].河北医学,2017,23(12):1937-1940.
[11]宋革,王奇玲,刘兴章,等.男性不育患者2406例染色体异常分析[J].中国计划生育学杂志,2012,20(4):257-259.
[12]张露,明蕾,潘颖,等.男性不育患者中Y染色体AZF微缺失与细胞遗传学分析[J].中国男科学杂志,2013,27(5):26-30,44.
[13]杨欢利,毛英姿,诸溢扬,等.无精症及严重少精症患者Y染色体微缺失及细胞遗传学研究[J].医学研究杂志,2012,41(12):106-109.
[14]滕贤麟,施金俏,郭辉,等.无精症及严重少精症患者染色体核型和Y染色体微缺失分析[J].检验医学,2014,29(12):1212-1214.
[15]蔡靖,林奇,刘红杰,等.inv(9)(p11q13)遗传效应在辅助生殖领域的研究[J].中国优生与遗传杂志,2015,(4):129-132.
[16]王贺,肖晓素,纪玲.9号染色体臂间倒位与不孕不育相关性的探讨[J].中国优生与遗传杂志,2017,25(3):47-48.
[17]Hermetz K E,Newman S,Conneely K N,et a1.Earge inverted duplications in the human genome form via a fold-back mechanism[J].PI.oS Genet,2014.10(1):4139.
[18]张选勇,陈祖翼,丁显平,等.四川地区Y染色体多态性男性AZF微缺失的研究[J].中国优生与遗传杂志,2014,22(10):73-75.
[19]孙宝刚,梁鲁南,房姣,等.大(小)Y染色体患者AZF微缺失分折与临床疾病关系的探讨[J].临床医学,2013,33(2):1-3.
[2]赵婧,黄湘,张艳芳,等.1237例不孕症患者染色体检查结果分析[J].国际检验医学杂志,2016,37(17):2411-2415.
[3]苏京荣,李琳.1226例男性不育患者的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(2):266-268.
[4]杨会林,董晶.严重少精子症及无精子症的遗传学分析[J].中国实验诊断学,2014,18(4):561-564.
[5]World Health Organization.WHO Laboratory Manual for the examination and processing of human semen[M].5th ed.Geneva:World Health Organization,2010:10-56
[6]关立军,胡一珍,高媛,等.邢台地区146例极重度少精子症、无精子症患者遗传学检查数据统计与意义分析[J].中国计划生育和妇产科,2015,7(12):58-62.
[7]王燕,林元,黄海龙,等.特发性不育患者Y染色体AZF微缺失筛查及表型分析[J].中国计划生育杂志,2015,23(12):819-821.
[8]扶梅妹,薛会丽,林娜,等.男性不育患者1540例细胞及分子遗传学分析[J].福建医药杂志,2018,40(3):53-55.
[9]薛会丽,林丹玫,陈雪美,等.189l例男性不育患者的细胞遗传学分析[J].中华医学遗传学杂志,2017,34(5):772-774.
[10]柴蓓蓓,何培,王惠莹,等.1032例男性不育症患者细胞遗传学分析[J].河北医学,2017,23(12):1937-1940.
[11]宋革,王奇玲,刘兴章,等.男性不育患者2406例染色体异常分析[J].中国计划生育学杂志,2012,20(4):257-259.
[12]张露,明蕾,潘颖,等.男性不育患者中Y染色体AZF微缺失与细胞遗传学分析[J].中国男科学杂志,2013,27(5):26-30,44.
[13]杨欢利,毛英姿,诸溢扬,等.无精症及严重少精症患者Y染色体微缺失及细胞遗传学研究[J].医学研究杂志,2012,41(12):106-109.
[14]滕贤麟,施金俏,郭辉,等.无精症及严重少精症患者染色体核型和Y染色体微缺失分析[J].检验医学,2014,29(12):1212-1214.
[15]蔡靖,林奇,刘红杰,等.inv(9)(p11q13)遗传效应在辅助生殖领域的研究[J].中国优生与遗传杂志,2015,(4):129-132.
[16]王贺,肖晓素,纪玲.9号染色体臂间倒位与不孕不育相关性的探讨[J].中国优生与遗传杂志,2017,25(3):47-48.
[17]Hermetz K E,Newman S,Conneely K N,et a1.Earge inverted duplications in the human genome form via a fold-back mechanism[J].PI.oS Genet,2014.10(1):4139.
[18]张选勇,陈祖翼,丁显平,等.四川地区Y染色体多态性男性AZF微缺失的研究[J].中国优生与遗传杂志,2014,22(10):73-75.
[19]孙宝刚,梁鲁南,房姣,等.大(小)Y染色体患者AZF微缺失分折与临床疾病关系的探讨[J].临床医学,2013,33(2):1-3.