男性不育和性发育异常病例中27个序列标签位点的应用价值

Application value of 27 sequence tagged sites in cases of male infertility and sexual dysplasia

目的:探讨27个序列标签位点(STS)检测在男性不育和性发育异常疾病中的应用价值。方法:收集2019年10月至2020年8月到河南省人民医院就诊的不育、性发育异常、性功能异常、尿道下裂、两性畸形等或超声提示胎儿生殖器官发育异常的91例患者(其中社会性别为女性5例,社会性别为男性85例,胎儿1例)。采用琼脂糖凝胶电泳检测技术对样本进行Y染色体无精子因子(AZF)微缺失检测;运用27个STS,采用复合荧光多重PCR毛细管电泳DNA片段分析技术对AZF微缺失与性染色体倍型拓展检测;G显带染色体核型分析技术对样本进行核型分析;比较基因组杂交芯片(aCGH)分析验证2例特殊病例。结果:琼脂糖凝胶电泳检测显示AZF微缺失总体异常检出率为11.0%,运用27个STS进行的AZF微缺失与性染色体倍型拓展检测方法显示总体异常检出率为26.4%。G显带染色体核型分析结合aCGH检测结果与运用27个STS进行的AZF微缺失与性染色体倍型拓展检测结果相互印证。结论:运用27个STS对AZF微缺失和性染色体数目等异常进行同时检测,提高了检出率,能更好地指导临床诊疗。

Aim:To explore the application value of 27 sequence tagged sites(STS)in male infertility and sexual dysplasia.Methods:From October 2019 to August 2020,91 patients with infertility,abnormal sexual development,abnormalsexual function,hypospadias,hermaphroditism or abnormal fetal reproductive organ development indicated by ultrasound were collected from Henan Provincial People′s Hospital(including 5 females,85 males and 1 fetus).Agarose gel electrophoresis was used to detect Y chromosome azoospermia factor(AZF)microdeletion.Multiplex PCR capillary electrophoresis DNA fragment analysis technology was used to detect AZF microdeletion and abnormal number of sex chromosomes using 27 STS genetic markers;G-banding karyotype analysis technology was used to analyze the karyotype of the patients.Array comparative genomic hybridization(aCGH)technology was used to detect the 2 special patients.Results:The total abnormality ratio of AZF microdeletion was 11.0%by agarose gel electrophoresis.The total abnormality ratio of AZF microdeletion was 26.4%by 27 STS genetic markers.The results of G-banding chromosome karyotype analysis combined with aCGH detection were consistent with the results of 27 STS genetic markers.Conclusion:It can improve the detected abnormality ratio and better guide clinical diagnosis and treatment using 27 STS genetic markers which can detect AZF microdeletion and abnormal number of sex chromosomes at the same time.