A FRAGILE GENE

被引：40

作者：

OOSTRA, BA ^{[1
]}

WILLEMS, PJ ^{[1
]}

机构：

[1] UNIV ANTWERP, DEPT MED GENET, B-2020 ANTWERP, BELGIUM

来源：

BIOESSAYS | 1995年 / 17卷 / 11期

关键词：

D O I：

10.1002/bies.950171107

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Fragile X syndrome is the most common cause of inherited mental retardation in humans. The fragile X gene (FIL(IRI) has been cloned and the mutation causing the disease is known. The molecular basis of the disease is an expansion of a trinucleotide repeat sequence (CGG) present in the first exon within the 5' untranslated region of the FMR1 gene. Affected individuals have repeat CGG sequences of above 200. As a result the gene is not producing protein. It has been shown that the FMR1 protein has RNA binding activity, but the function of this RNA binding activity is not known. The timing and mechanism of repeat amplification are not yet understood. An animal model for fragile X syndrome has been generated, which can be used to study the clinical and biochemical abnormalities caused by absence of FMR1 protein product.

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页码：941 / 947

页数：7

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