应用荧光标记引物进行DMD家系连锁分析  

Linkage analysis of DMD families by fluorescence-labeled primers

作　　者：李崎[1] 周繇[1] 马宁[1] 陈雪银[1] 金应霞[1] 陈宏健[1] 马燕琳[1] 

机构地区：[1]海南医学院附属医院海南省人类生殖与遗传重点实验室,海南海口570102

出　　处：《中国妇幼保健》2015年第21期3659-3661,共3页Maternal and Child Health Care of China

基　　金：科技部国际合作重大专项〔2014DFA30180〕;国家自然科学基金项目〔81060175;81460034;81260032;81060016〕

摘　　要：目的应用荧光引物建立进行性肌营养不良产前诊断连锁分析方法。方法应用不同荧光染料标记7对dystrophy基因内部的短串联重复序列5'-5n4、DXS206、5'-7n4、DXS1238、DXS1237、DXS1236和DXS1235,经PCR扩增后,采用ABI3500测序仪进行毛细管电泳,对5个Duchenne型肌营养不良症(DMD)家系进行连锁分析,进行胎儿产前诊断。结果 2个胎儿被检测出携带与先证者相同的X染色体遗传片段,其中1个SRY基因检测阳性,建议引产;1个SRY基因检测阴性,建议继续妊娠;另外3个胎儿未检测出与先证者携带相同的X染色体遗传片段,建议继续妊娠。结论该方法方法操作简便、敏感、准确,用于产前诊断和携带者检出,可在临床推广运用。Objective To establish linkage analytical method for prenatal diagnosis of Duchenne- type progressive muscular dystrophy （DMD） by fluorescence-labeled primers. Methods Different fluorescent dyes were used to label 7 pairs of short tandem repeats （5＇-5n4, DXS206, 5＇-7n4, DXS1238, DXS1237, DXS1236, DXS1235） in dystrophy gene, after PCR amplification, ABI3500 sequencer was used to conduct capillary electrophoresis, five DMD families were analyzed by linkage analysis, fetal prenatal diagnosis was conducted. Results Two fetuses in 5 DMD families were detected to carry the same X chromosome fragments as the propositus＇, one of them was suggested to induced labor which had positive SRY gene, one of them was recommended to continue pregnancy which had negative SRY gene ; three of the other fetuses in 5 DMD families not found with the same X chromosome fragments as propositus＂ were suggested to continue pregnancy. Conclusion This method is simple, sensitive, and accurate, which can be used for prenatal diagnosis and carrier detection, the method is worthy of clinical popularization and application.

关 键 词：进行性肌营养不良 短串联重复序列 连锁分析 荧光 

分 类 号：R714.55[医药卫生—妇产科学]