摘要
目的:分析3378例男性遗传咨询者的遗传学检测结果与其临床表现的关系。方法:通过手淫方式取精,进行精液常规分析。采取外周血进行淋巴细胞培养,常规制备染色体标本,采用G显带方法进行染色体核型分析,遇有特殊情况用C显带方法进行验证。提取外周血DNA,通过PCR扩增和琼脂糖凝胶电泳方法,检测AZF微缺失。结果:3378例患者中检出异常核型535例,异常率为15. 8%。其中,染色体数目异常371例(69. 3%),结构异常84例(15. 7%),性别表现异常8例(1. 5%),嵌合体5例(0. 9%),多态性67例(12. 5%)。无精子症1346例中,核型异常385例(28. 6%);少弱精359例中,核型异常34例(9. 5%);精子活率低、畸形342例中,核型异常18例(5. 3%);严重少弱精10例中,核型异常2例(20. 0%)。1337例AZF检测中,缺失150例,缺失率为11. 2%。其中,SRY+a+b+c区域缺失6例(4. 0%); AZFa+b+c区域缺失16例(10. 7%); AZFb+c区域缺失28例(18. 7%); AZFa区域缺失14例(9. 3%); AZFb区域缺失7例(4. 7%); AZFc区域缺失79例(52. 7%)。结论:染色体异常和AZF缺失是导致男性性发育异常、不孕不育、智力低下、胎儿畸形、不良孕产史、无精、少弱精等疾病的重要原因,对该类患者进行遗传学检测,对于临床诊断和指导优生优育具有重要意义。
Objective:To analyze the relationship between genetic test results and clinical effects in 3378 male genetic counselors.Methods:Karyotyping was performed from blood lymphocyte culture using the G-bands by Giemsa analysis and C-bands using barium hydroxide and Giemsa.With the DNA extracted from peripheral leucocytes,multiplex polymerase chain reaction was performed for analysis of AZFa,AZFb,AZFc.PCR products were subjected to electrophoresis on 2.5% agarose gel,visualized by exposure to ultraviolet light.Results:Among the 3378 genetic counselors,535 abnormalities were found.The abnormal rate of karyotype was(15.8%).Among them there were 371 cases(69.3%)of numerical abnormality of chromosome karyotypes,84 cases(15.7%)of structural abnormalities,8 cases(1.5%)of dysplasia,5 cases(0.9%)of chimeras,67 cases(12.5%)of chromosome polymorphism.In 3378 cases of genetic counselors,1346 cases of azoospermia,359 cases of oligozoospermia,342 cases of high sperm malformation rate and 10 cases of severe oligozoospermia were found,the number of karyotype abnormalities were 385 cases(28.6%),34 cases(9.5%),18 cases(5.3%),2 cases(20.0%)respectively.1337 cases of male checked the AZF microdeletion,of which 150 cases of AZF abnormalities,the abnormal rate of 11.2%.There were 6 cases(4.0%)of SRY+AZFa+b+c region deletion,16 cases(10.7%)of AZFa+b+c region deletion,28 cases(18.7%)of AZFb+c region,14 cases(9.3%) in AZFa region,7 cases(4.7%)were absent in AZFb region and 79 cases(52.7%)were missing AZFc region.Conclusions:Chromosomal abnormalities and AZF microdeletion are the most important causes of dysplasia,infertility,mental retardation,fetal malformations,poor maternal history,azoospermia,oligozoospermia and other diseases.For this kind of patients for genetic testing,has important significance for the clinical diagnosis and guidance of eugenics.
作者
韩瑞钰
邓佩佩
张展羽
吴江乾
安苏雅
刘杰
王树松
HAN Ruiyu;DENG Peipei;ZHANG Zhanyu;WU Jiangqian;AN Suya;LIU Jie;WANG Shusong(Hebei Research Institute for Family Planning,Key Laboratory of Family Planning and Health Birth,National Health and Family Planning Commission,Shijiazhuang 050071,Hebei,China)
出处
《中国性科学》
2018年第12期27-30,共4页
Chinese Journal of Human Sexuality
关键词
遗传咨询染色体异常
精液分析
Y染色体微缺失
Genetic counseling
Chromosomal abnormalities
Seminal fluid analysis
Y chromosome microdeletion
