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哺乳动物中FMR1基因CGG区域的保守性。

Conservation of CGG region in FMR1 gene in mammals.

作者信息

Deelen W, Bakker C, Halley D J, Oostra B A

机构信息

Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

出版信息

Am J Med Genet. 1994 Jul 15;51(4):513-6. doi: 10.1002/ajmg.1320510445.

Abstract

Only two of the fragile sites found in humans (FRAXA and FRAXE) have been associated with a clinical phenotype. In mentally retarded individuals with cytogenetic expression of FRAXA a CGG repeat in the FMR1 gene is amplified. Fragile sites are found in many animals species. We have analyzed the FRAXA region containing the CGG repeat in several different species by PCR amplification. In most mammals this region could be amplified; the number of copies of the repeat is deduced.

摘要

在人类中发现的脆性位点(FRAXA和FRAXE)只有两个与临床表型相关。在具有FRAXA细胞遗传学表达的智力迟钝个体中,FMR1基因中的CGG重复序列被扩增。在许多动物物种中都发现了脆性位点。我们通过PCR扩增分析了几个不同物种中包含CGG重复序列的FRAXA区域。在大多数哺乳动物中,该区域可以被扩增;重复序列的拷贝数也可推断出来。

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