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。
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,and the 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 was 3.33%.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.
作者
张丽洁
赵园
赵乔佳杰
王九菊
李艳春
魏绪仓
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)
出处
《现代检验医学杂志》
CAS
2019年第3期59-61,共3页
Journal of Modern Laboratory Medicine
关键词
不育
遗传因素
染色体核型异常
Y染色体微缺失
infertility
genetic factors
abnormal chromosomal karyotype
Y chromosome microdeletion
