[1]李 静,毕亮亮,黄岩杰,等.生精障碍患者227例遗传学分析[J].郑州大学学报(医学版),2019,(06):895-898.[doi:10.13705/j.issn.1671-6825.2018.11.155]
 LI Jing,BI Liangliang,HUANG Yanjie,et al.Genetic analysis of 227 males with dyszoospermia[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2019,(06):895-898.[doi:10.13705/j.issn.1671-6825.2018.11.155]
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生精障碍患者227例遗传学分析()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2019年06期
页码:
895-898
栏目:
应用研究
出版日期:
2019-11-20

文章信息/Info

Title:
Genetic analysis of 227 males with dyszoospermia
作者:
李 静毕亮亮黄岩杰杨晓青梅晓峰李金刚白梦刻
河南中医药大学第一附属医院儿科实验室 郑州 450000
Author(s):
LI Jing BI Liangliang HUANG Yanjie YANG Xiaoqing MEI XiaofengLI JingangBAI Mengke
Pediatric Laboratory, the First Affiliated Hospital,Henan University of Chinese Traditional Medicine, Zhengzhou 450000
关键词:
生精障碍 染色体核型 无精子因子微缺失
Keywords:
dyszoospermia chromosome karyotype AZF microdeletion
分类号:
R698+.2; R394
DOI:
10.13705/j.issn.1671-6825.2018.11.155
摘要:
目的:探讨染色体核型和Y染色体无精子因子(AZF)微缺失与男性生精障碍的关联。方法:对227例生精障碍患者进行外周血淋巴细胞G显带染色体核型分析,采用qRT-PCR扩增进行AZF微缺失检测。结果:在227例生精障碍患者中检出染色体异常49例(21.59%),其中Kleinefelter综合征17例(7.49%),性反转2例(0.88%),Y染色体部分缺失2例(0.88%),常染色体易位5例(2.20%),染色体多态性23例(10.13%)。检出21例(9.25%)存在AZF微缺失,其中AZFa缺失1例,AZFb缺失2例,AZFc缺失7例,AZFd缺失4例,AZFa+b+c+d缺失4例,AZFb+c缺失2例,AZFc+d缺失1例。AZF微缺失可见于染色体核型为47,XXY、46,XX、46,X,del(Y)、46,X,Yqh-、46,XY的生精障碍患者中。在178例正常核型的生精障碍患者中检出10例(5.62%)AZF微缺失。结论:染色体核型联合AZF微缺失检测有助于生精障碍的诊断和治疗方案的选择。
Abstract:
Aim:To explore the association of chromosome karyotype and Y chromosome azoospermia factor(AZF)microdeletion with dyszoospermia.Methods:The G-banding chromosome karyotype was analyzed using peripheral blood lymphocyte culture method in 277 patients with dyszoospermia, and AZF microdeletion was detected by qRT-PCR.Results:Chromosomal abnormalities were detected in 49 cases(21.59%)of 227 patients with dyszoospermia, including 17 cases(7.49%)of kleinefelter syndrome, 2 cases(0.88%)of sex reversal, 2 cases(0.88%)of Y chromosome partial deletion, 5 cases(2.20%)of autosomal translocation, 23 cases(10.13%)of chromosomal polymorphism. AZF microdeletion were detected in 21 cases(9.25%)of 227 patients with dyszoospermia, including 1 case of AZFa microdeletion, 2 cases of AZFb microdeletion, 7 cases of AZFc microdeletion, 4 cases of AZFd microdeletion, 4 cases of AZFa+b+c+d microdeletion, 2 cases of AZFb+c microdeletion, 1 case of AZFc+d microdeletion. AZF microdeletion were observed in dyszoospermia patients with some chromosome karyotypes, including 47,XXY, 46,XX, 46,X,del(Y), 46,X,Yqh- and 46,XY. Among 178 dyszoospermia patients with normal chromosome karyotype, 10 cases(5.62%)were detected with AZF microdeletion.Conclusion:Chromosome karyotype analysis combined with AZF microdeletion examination is helpful for the diagnosis and treatment options of dyszoospermia.

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备注/Memo

备注/Memo:
【基金项目】河南省科技创新杰出青年科技计划项目(144100510014) 【作者简介】黄岩杰,通信作者,女,1969年5月生,博士,主任医师,教授,研究方向:遗传免疫性疾病的诊治,E-mail:huangyanjie69@163.com
更新日期/Last Update: 2019-11-20