男性生育异常与染色体多态相关性分析

Analysis of relationship between male fertility abnormalities and chromosomal polymorphism

目的探讨宁夏地区男性生育异常与染色体多态性的关系。方法收集2016年1月至2018年5月来我院生殖中心就诊的男性生育异常患者3 102例,抽取患者外周静脉血2～4ml进行淋巴细胞培养,并进一步做G显带及染色体核型分析;对患者进行常规精液检测,根据精液结果分为精液正常组(n=2 741)、无精子症组(n=259)及少弱精子症组(n=102),比较分析三组间染色体多态性检测情况。结果患者中检出染色体多态者共计588例,检出率18.95%。染色体多态核型分析结果显示,222例(37.76%)为D/G组(包括13、14、15、21、22号染色体)随体增加;67例(11.39%)为1号、9号、16号染色体次缢痕的增加;29例(4.93%)为9号染色体臂间倒位;270例(45.92%)为Y染色体多态变异。无精子症组、少弱子精症组及精液正常组患者染色体多态检出率分别为22.01%、28.43%和18.31%,少弱精子症组染色体多态检出率显著高于其他两组(P<0.05),而无精子症组与精液正常组比较,差异无统计学意义(P>0.05)。结论染色体多态与男性无精、少精等生育异常密切相关,在临床遗传咨询和诊断治疗中应引起重视。

Objective: To analyze the relationship between male fertility abnormalities and chromosomal polymorphism in Ningxia province.Methods:Two to four ml of peripheral blood samples were collected for lymphocyte culture and further G band &karyotype analysis from 3 102 male fertility abnormalities in our fertility medicine center from January 2016 to May 2018.Routine semen analysis was performed.According to semen analysis results,the patients was divided into normal group(n=2 741),azoospermia group(n=259)and oligoasthenospermia group(n=102).The polymorphism detection was performed and compared among the three groups.Results:A total of 588 patients with chromosomal polymorphism were detected,and the detection rate was 18.95%.Chromosomal polymorphic karyotype analysis showed that 222 patients with increase of D/G group trabant,accounting for 37.76%.Among them,67 patients(11.39%)had increase of secondary constriction on chromosome 1,9,16,29,and 29 patients(4.93%)with pericentric inversion on chromosome 9,while 270 patients(45.92%)with Y chromosome polymorphism.The incidence of chromosome polymorphism in the azoospermia,oligoasthenospermia and normal groups was 22.01%,28.43% and 18.31% respectively.The incidences of chromosome polymorphism in the oligoasthenospermia group was significantly higher than that in the other two groups(P <0.05).However,there was no significant difference between the azoospermia group and the normal semen group(P>0.05).Conclusions:Chromosomal polymorphisms are closely related to male fertility abnormalities such as azoospermia and oligoasthenospermia,and the clinical genetic counseling and diagnosis and treatment should be paid attention to.