【摘要】 目的:应用荧光原位杂交(FISH)筛查技术检测假性肥大型肌营养不良症(DMD/BMD)缺失型携带者。方法:以外显子特异Cosmid DNA为探针(含18个外显子),采用中期和间期单色FISH技术,对9例正常男、女性及来自不同缺失型DMD/BMD家系的5例女性外周血标本、来自健康孕妇的2例羊水和2例绒毛标本进行分析。结果:72～100％外周血淋巴细胞中期相或间期核、60～70％羊水细胞间期核、95～99％绒毛细胞间期核显示预期信号。FISH检出1名、排除2名缺失型携带者。结论:充分利用FISH技术优点,结合现有其它技术,可有效筛查DMD/BMD缺失型携带者,并为女性胎儿DMD/BMD缺失型携带者产前诊断奠定基础。更多还原

【Abstract】 Objective: To identify the deletions in Duchenne/Becker muscular dystrophy (DMD/BMD) by using fluorescence in situ hybridization (FISH). Methods: The exon-specific cosmid DNA probes (representing 18 exons) were used to perform one-color FISH on metaphase and interphase preparations. The peripheral blood samples from 9 normal people (4 male and female) and 5 females from independent deletion DMD/ BMD families, as well as 2 amniotic fluid specimens and 2 chorionic villus samples (CVS) from normal pregnant females were analyzed. Results: 72-100% of peripheral blood lymphocyte metaphases or inter-phases, 60- 70% of amniocyte interphases, and 95-99% of chorionic villus cell interphases showed expected signals. One suspected female was identified as deletion carriers and two were excluded. Conclusion; FISH in combination with other available techniques allows efficient screening of DMD/BMD deletion carriers, which also lay the ground work for prenatal diagnosis for potential fetal carriers.更多还原