[1]张丽洁,赵 园,赵乔佳杰,等.男性不育患者Y染色体AZF基因微缺失检测和染色体核型分析[J].现代检验医学杂志,2019,34(03):59-61.[doi:10.3969/j.issn.1671-7414.2019.03.014]
　ZHANG Li-jie,ZHAO Yuan,ZHAO Qiao-jia-jie,et al.Detection of Y Chromosome AZF Gene Microdeletionand Karyotype Analysis in Male Infertile Patients[J].Journal of Modern Laboratory Medicine,2019,34(03):59-61.[doi:10.3969/j.issn.1671-7414.2019.03.014]
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男性不育患者Y染色体AZF基因微缺失检测和染色体核型分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第34卷
期数:
2019年03期
页码:
59-61
栏目:
论著
出版日期:
2019-06-20

文章信息/Info

Title:
Detection of Y Chromosome AZF Gene Microdeletionand Karyotype Analysis in Male Infertile Patients
文章编号:
1671-7414(2019)03-059-03
作者:
张丽洁; 赵 园; 赵乔佳杰; 王九菊; 李艳春; 魏绪仓
(陕西省人民医院血液遗传研究所,西安 710068)
Author(s):
ZHANG Li-jie; ZHAO Yuan; ZHAO Qiao-jia-jie; WANG Jiu-ju; LI Yan-chun; WEI Xu-cang
(Institute of Hematogenetics,Shaanxi Provincial People's Hospital,Xi'an 710068,China)
关键词:
不育;  遗传因素;  染色体核型异常;  Y染色体微缺失
分类号:
R698.2; R394-33
DOI:
10.3969/j.issn.1671-7414.2019.03.014
文献标志码:
A
摘要:
目的 探讨男性不育的遗传因素。方法 采用多重荧光定量PCR方法对60例严重少、弱精症和无精症的不育患者进行Y染色体AZF基因微缺失检测,同时用G显带方法分析染色体核型。结果 60例患者中有5例染色体核型异常,检出率为8.33%,且异常核型均为47,XXY,即克氏综合征。Y染色体AZF基因微缺失检出2例患者,检出率为3.33%,缺失类型均为AZFc区缺失。30例精液常规正常的健康志愿者未检出Y染色体AZF基因缺失。结论 染色体核型异常及Y染色体AZF基因微缺失与男性不育密切相关,且克氏综合征和AZFc区缺失为常见的异常类型。
Abstract:
Objective To explore the genetic factors of male infertility.Methods Multi-fluorescence quantitative PCR was used to detect AZF gene microdeletion of Y chromosome in 60 infertile patients with severe oligozoospermia and azoospermia,and G-banding method was adopted to analyze the karyotype.Results Among the 60 infertile patients,5 patients bore the abnormal chromosome karyotype of 47,XXY,andthe detection rate was 8.33%.Two patients with AZFc region deletion in Y chromosome were detected by AZF gene microdeletion assay,and the detection rate was3.33%.AZF gene deletion of Y chromosome was not detected in the 30 healthy volunteers with normal sperm routine.Conclusion Abnormal chromosome karyotype and microdeletion on Y chromosome were closely correlated with male infertility,and the Klinefelter syndrome and AZFc microdeletion are common abnormal types.

参考文献/References:

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备注/Memo

备注/Memo:
作者简介:张丽洁(1982-),女,博士,主治医师,从事细胞和分子遗传学诊断检测,E-mail:cyzlj8383@163.com。 通讯作者:魏绪仓(1962-),男,本科,研究员,二级教授,硕士生导师,从事血液遗传诊断工作,E-mail: weixucang62@sina.com。 收稿日期:2019-03-21 修回日期:2019-04-04
更新日期/Last Update: 2019-06-20