多重PCR技术在Y染色体微缺失快速筛查中的应用  

Application of multiplex PCR for rapid screening of the Y chromosomal microdeletion

作　　者：桂俊豪[1] 王瑞[1] 刘鸿春[1] 曹金军[1] 宋云宏[1] 杨柳[1] 黄国香[1] 苏晓津[1] 邹红云[1] 何江[1] 余伍忠[1] 

机构地区：[1]兰州军区乌鲁木齐总医院,乌鲁木齐830000

出　　处：《国际检验医学杂志》2012年第6期681-682,共2页International Journal of Laboratory Medicine

摘　　要：目的探讨多重聚合酶链反应(PCR)技术在Y染色体微缺失快速筛查中的应用价值。方法以38例健康男性和46例无(少)精症男性外周血淋巴细胞基因组DNA为模板,采用针对Y染色体无精子因子(AZF)4个亚区(AZFa～d)15个序列标签位点(STS)的多重引物进行PCR检测,并以琼脂糖凝胶电泳分析PCR产物。结果 84例受试者多重PCR检测成功率为100%,且特异性好,扩增效率高。健康男性标本可检出15个STS。患者中检出AZFc+d微缺失1例。结论多重PCR是快速筛查Y染色体微缺失的有效工具。Objective To investigate the application value of multiplex polymerase chain reaction（PCR） for rapid screening of Y chromosomal microdeletion.Methods Multiplex PCR,using multiplex primers specific for 15 sequence-tagged sites（STS） in 4 sub-regions of azoospermia factor（AZF） on Y chromosome including AZFa-b,was performed for the detection of genomic DNA of peripheral lymphocytes from 38 cases of healthy males and 46 cases of patients with oligozoospermia.The PCR products were analyzed by agar gel electrophoresis.Results The achievement ratio of multiplex PCR was 100% in all 84 cases of subjects,with fine specificity and high efficiency.All 15 STS could be detected in specimens of healthy males.One case with microdeletion in AZFc＋d sub-region was demonstrated in patients.Conclusion Multiplex PCR could serve as significant clinical tool for rapid screening of Y chromosomal microdeletion.

关 键 词：聚合酶链反应 Y染色体 无精子因子 微缺失 快速筛查 

分 类 号：R698.2[医药卫生—泌尿科学]