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多聚酶链式反应检测FMR-1基因突变
DETECTION OF FMR-1 GENE MUTATION BY PLOLYMERASE CHAIN REACTION
【摘要】 采用多聚酶链式反应(PCR)结合银染或非同位素杂交的方法,对15例脆性X染色体阳性的患者和携带者进行了检查。结果显示,该方法可以检出FMR-1正常扩增带、前突变与完全突变,与细胞遗传学检查相比,PCR检测更为快捷与准确。
【Abstract】 Using PCR,we studied the fragile X positive patients and carriers.The analysis was performed as S.H.Erster,but PCR products were detected either by silver staining,or by hybridization with biotin labeled probes and immunologic detection.The PCR products of normal indivlduals,the premutation and the full mutation can be detected by this method.Compared with the cytogenetic method,PCR analysis is more accurate and faster,
【关键词】 多聚酶链式反应;
脆性X综合征;
基因突变;
【Key words】 Polymerase chain reaction; Fragile X syndrome; Gene mutation;
【Key words】 Polymerase chain reaction; Fragile X syndrome; Gene mutation;
【基金】 湖南省科委重点资助
- 【文献出处】 中华医学遗传学杂志 ,CHINESE JOURNAL OF MEDICAL CENETICS , 编辑部邮箱 ,1995年03期
- 【分类号】R596.104
- 【被引频次】2
- 【下载频次】19