小Y染色体对男性生育力的影响及临床效应分析
|
摘要
目的探讨小Y染色体对男性生育能力的影响及临床效应分析。方法收集因不孕不育或配偶有不良孕产史就诊的男性患者1 804例(实验组),分为2组,其中A组1 269例,拟行体外授精/卵胞质内单精子注射-胚胎移植(IVF/ICSI-ET)技术;B组535例,配偶既往均有不良孕产史或羊水穿刺提示胎儿染色体异常等。对照组为行羊水穿刺诊断结果为正常的男性病例656例。采用染色体G显带技术对两组患者进行核型分析,筛选小Y染色体。对检出的小Y患者应用PCR荧光探针法检测Y染色体无精子因子(AZF)的相关序列标签位点。结果实验组共检出小Y染色体44例,其中A组31例,B组13例(已剔除1例);对照组检出6例。A组及B组的小Y染色体检出率与对照组比较,差别均有统计学意义(P<0.05),而A组与B组间差别无统计学意义(P>0.05)。Y染色体微缺失检测发现,A组AZF微缺失3例,其中2例为AZFc缺失,1例为AZFb+c复合缺失,B组未发现AZF微缺失,AZF微缺失发生率为6.81%(3/44)。结论小Y染色体可能与男性不育及不良妊娠结局的发生有关,存在潜在的临床效应。
Objective To investigate the effect of short Y chromosome on male fertility and its clinical effect. Methods A retrospective analysis of 1 804 male patients either treated for infertility or spouse with adverse pregnancy history who were divided into group A(1 269 cases of IVF/ICSI-ET) and group B(spouse had a history of adverse pregnancy or amniocentesis indicating fetal chromosomal abnormalities, etc.) 535 cases. In the control group there were 656 cases of male patients diagnosed with amniocentesis. We did karyotype analysis using chromosome G banding technique and detection of short Y patients using PCR fluorescence probe method to detect Y chromosome AZF related sequence tag site. Results A total of 45 cases of short Y were detected, including 31 cases in group A and 13 cases in group B(1 case was excluded). The detection rate of small Y in group A and group B was statistically significant compared with the control group(P<0.05). There was no significant difference in the detection rate of the two short Y karyotypes(P>0.05). The clinical effects of small Y were: azoospermia, oligozoospermia, spouse embryo suspension/spontaneous abortion, and other adverse pregnancy outcomes. In group A, three cases of AZF microdeletions were found, two cases of AZFc deletion and one case of AZFb+c complex deletion. No AZF microdeletions were found in group B, and the rate of AZF microdeletion on chromosome Y was 6.81%(3/44). Conclusion The short Y chromosome may be associated with male infertility and adverse pregnancy outcomes, there is a potential clinical effect.
Objective To investigate the effect of short Y chromosome on male fertility and its clinical effect. Methods A retrospective analysis of 1 804 male patients either treated for infertility or spouse with adverse pregnancy history who were divided into group A(1 269 cases of IVF/ICSI-ET) and group B(spouse had a history of adverse pregnancy or amniocentesis indicating fetal chromosomal abnormalities, etc.) 535 cases. In the control group there were 656 cases of male patients diagnosed with amniocentesis. We did karyotype analysis using chromosome G banding technique and detection of short Y patients using PCR fluorescence probe method to detect Y chromosome AZF related sequence tag site. Results A total of 45 cases of short Y were detected, including 31 cases in group A and 13 cases in group B(1 case was excluded). The detection rate of small Y in group A and group B was statistically significant compared with the control group(P<0.05). There was no significant difference in the detection rate of the two short Y karyotypes(P>0.05). The clinical effects of small Y were: azoospermia, oligozoospermia, spouse embryo suspension/spontaneous abortion, and other adverse pregnancy outcomes. In group A, three cases of AZF microdeletions were found, two cases of AZFc deletion and one case of AZFb+c complex deletion. No AZF microdeletions were found in group B, and the rate of AZF microdeletion on chromosome Y was 6.81%(3/44). Conclusion The short Y chromosome may be associated with male infertility and adverse pregnancy outcomes, there is a potential clinical effect.
引文
[1] Brugh V M,Lipshultz L I.Male factor infertility:evaluation and management[J].Med Clin North Am,2004,88(2):367-385.
[2] Mehta A,Nangia A K,Dupree J M,et al.Limitations and barriers in access tocare for male factor infertility[J].Fertil Steril,2016,105(5):1128-1137.
[3] Miyamoto T,Minase G,Okabe K,et al.Male infertility and its genetic causes.[J].J Obstet Gynaecol Res,2015,41(10):1501-1505.
[4] Hsu L Y,Benn P A,Tannenbaum H L,et al.Chromosomal polymorphisms of 1,9,16,and Y in 4 major ethnic groups:a large prenatal study[J].Am J Med Genet,1987,26(1):95-101.
[5] Xiao Z,Zhou X,Xu W,et al.A preliminary study of the relationship between the long arm of the Y chromosome(Yqh+) and reproductive outcome in IVF/ICSI-ET[J].Eur J Obstec Gynecol Reprod Biol,2012,165(1):57-60.
[6] 陈亮,付杰,陈菲,等.Y染色体长度变异对男性生育功能的影响[J].北京大学学报(医学版),2014,46(2):211-214.
[7] 李亚丽,高福禄,段相林.Y染色体多态性与临床遗传学效应的研究[J].中国妇幼保健,2013,28(25):4192-4194.
[8] World Health Organization.WHO Laboratory Manual for the Examination and Processing of Human Semen[M].Geneva:WHO,2010:224-225.
[9] 田爱香,王泰峰,张志红.大(小)Y染色体核型与临床疾病关系的探讨[J].滨州医学院报,2004,27(1):75-76.
[10] Choi D K,Gong I H,Jin H H,et al.Detection of Y chromosome microdeletion is valuable in the treatment of patients with nonobstructive azoospermia and oligoasthenoteratozoospermia:sperm retrieval rate and birth rate[J].Korean J Urol,2013,54(2):111-116.
[11] 陈琨,廖喆,任凌雁,等.贵州地区575例男性不育症患者染色体核型分析及Y染色体AZF微缺失情况观察[J].山东医药,2017,54(47):42-43.
[12] Elfateh F,Dai R,Xin Y,et al.Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China[J].Iran J Reprod Med,2014,12(6):383-388.
[13] 胡兰萍,刘能辉,潘乾,等.原发性无精、少弱精症患者Y染色体AZF微缺失检测[J].中南大学学报(医学版),2007,32(2):241-245.
[14] 陈亮,付杰,潘虹,等.男方染色体异常对配偶不良妊娠结局的影响及其临床意义[J].中华男科学杂志,2014,20(5):464-466.
[2] Mehta A,Nangia A K,Dupree J M,et al.Limitations and barriers in access tocare for male factor infertility[J].Fertil Steril,2016,105(5):1128-1137.
[3] Miyamoto T,Minase G,Okabe K,et al.Male infertility and its genetic causes.[J].J Obstet Gynaecol Res,2015,41(10):1501-1505.
[4] Hsu L Y,Benn P A,Tannenbaum H L,et al.Chromosomal polymorphisms of 1,9,16,and Y in 4 major ethnic groups:a large prenatal study[J].Am J Med Genet,1987,26(1):95-101.
[5] Xiao Z,Zhou X,Xu W,et al.A preliminary study of the relationship between the long arm of the Y chromosome(Yqh+) and reproductive outcome in IVF/ICSI-ET[J].Eur J Obstec Gynecol Reprod Biol,2012,165(1):57-60.
[6] 陈亮,付杰,陈菲,等.Y染色体长度变异对男性生育功能的影响[J].北京大学学报(医学版),2014,46(2):211-214.
[7] 李亚丽,高福禄,段相林.Y染色体多态性与临床遗传学效应的研究[J].中国妇幼保健,2013,28(25):4192-4194.
[8] World Health Organization.WHO Laboratory Manual for the Examination and Processing of Human Semen[M].Geneva:WHO,2010:224-225.
[9] 田爱香,王泰峰,张志红.大(小)Y染色体核型与临床疾病关系的探讨[J].滨州医学院报,2004,27(1):75-76.
[10] Choi D K,Gong I H,Jin H H,et al.Detection of Y chromosome microdeletion is valuable in the treatment of patients with nonobstructive azoospermia and oligoasthenoteratozoospermia:sperm retrieval rate and birth rate[J].Korean J Urol,2013,54(2):111-116.
[11] 陈琨,廖喆,任凌雁,等.贵州地区575例男性不育症患者染色体核型分析及Y染色体AZF微缺失情况观察[J].山东医药,2017,54(47):42-43.
[12] Elfateh F,Dai R,Xin Y,et al.Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China[J].Iran J Reprod Med,2014,12(6):383-388.
[13] 胡兰萍,刘能辉,潘乾,等.原发性无精、少弱精症患者Y染色体AZF微缺失检测[J].中南大学学报(医学版),2007,32(2):241-245.
[14] 陈亮,付杰,潘虹,等.男方染色体异常对配偶不良妊娠结局的影响及其临床意义[J].中华男科学杂志,2014,20(5):464-466.