CAJ | 학술논문

目的探讨Y染色体异常及AZF微缺失与男性生殖异常的关系.方法病例对照研究.收集2007年4月至2011年4月因生殖异常到吉林省生殖医学研究所临床基地及吉林大学临床医院就诊的2694例男性患者(23～49岁),其中生精障碍组1332例、配偶不良妊娠组994例、不良生育组368例.G显带技术分析患者外周血染色体核型,PCR方法对检出的Y染色体异常患者行AZF微缺失检测.x2检验比较Y染色体异常在3组生殖异常中的发生率.结果检出Y染色体异常51例(1.89％,51/2694):其中生精障碍组32例(2.40％,32/1332)、配偶不良妊娠组15例(1.51％,15/994)、不良生育组4例(1.09％,4/368).x2检验比较Y染色体异常在3组之间的发生率,差异均无统计学意义(x2 =3.895,P ＞0.05).51例Y染色体异常患者中检出AZF微缺失10例(19.61％,10/51),均为生精障碍患者.结论 Y染色体异常在3组生殖异常中的发生率相近.对生殖异常男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因.
목적 탐토Y염색체이상급AZF미결실여남성생식이상적관계.방법 병례대조연구.수집2007년4월지2011년4월인생식이상도길림성생식의학연구소림상기지급길림대학림상의원취진적2694례남성환자(23～49세),기중생정장애조1332례、배우불량임신조994례、불량생육조368례.G현대기술분석환자외주혈염색체핵형,PCR방법대검출적Y염색체이상환자행AZF미결실검측.x2검험비교Y염색체이상재3조생식이상중적발생솔.결과 검출Y염색체이상51례(1.89％,51/2694):기중생정장애조32례(2.40％,32/1332)、배우불량임신조15례(1.51％,15/994)、불량생육조4례(1.09％,4/368).x2검험비교Y염색체이상재3조지간적발생솔,차이균무통계학의의(x2 =3.895,P ＞0.05).51례Y염색체이상환자중검출AZF미결실10례(19.61％,10/51),균위생정장애환자.결론 Y염색체이상재3조생식이상중적발생솔상근.대생식이상남성행외주혈염색체검사화AZF미결실검측유조우명학기유전학병인.
Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure.Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province.Patients were divided into three groups:spermatogenic failure group (n =1332),disadvantage pregnancy outcomes group (n =994) and adverse birth outcomes group.All patients underwent chromosomal karyotype analysis (G-banding).AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCR.The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups.Results Of the 51 cases of Y chromosome abnormalities (1.89％,51/2694),32 were (2.40％,32/1332) in the spermatogenic failure group,15 were (1.51％,15/994) in disadvantage pregnancy outcomes group and 4 were (1.09％,4/368) in adverse birth outcomes group.There was no significant difference in Y chromosome abnormalities among different groups (x2 =3.895,P ＞0.05).AZF microdeletions were detected in 10 cases (19.61％,10/51) of Y chromosome abnormalities patients with spermatogenic failure.Conclusions The incidence of Y chromosomal abnormalities in three reproductive failure groups is similar.Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiology in males with reproductive failure.