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囊性纤维化:通过脉冲场凝胶电泳筛查DNA缺失

Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis.

作者信息

Morreau J, Sinaasappel M, Oostra B A, Halley D J

机构信息

Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands.

出版信息

Hum Genet. 1988 May;79(1):64-7. doi: 10.1007/BF00291712.

Abstract

We analyzed DNA of ten cystic fibrosis (CF) patients representing DNA of 19 different CF chromosomes and screened for deletions by means of field inversion gel electrophoresis (FIGE). No differences were detected after digestion of the DNA samples with the restriction enzymes Not I and Sfi I and hybridization with the probes MetH, MetD, J3.11, and 7C22. Thus the percentage of deletions occurring within the CF region and detectable with FIGE is less than 15.2% (95% confidence interval, N = 19).

摘要

我们分析了10名囊性纤维化(CF)患者的DNA,这些DNA代表了19条不同的CF染色体,并通过脉冲场凝胶电泳(FIGE)筛选缺失情况。在用限制性内切酶Not I和Sfi I消化DNA样本并与探针MetH、MetD、J3.11和7C22杂交后,未检测到差异。因此,在CF区域内发生且能用FIGE检测到的缺失百分比小于15.2%(95%置信区间,N = 19)。

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