The fragile X syndrome

被引：0
|
作者：
Szot, M [1 ]
机构：
[1] JAGIELLONIAN UNIV,INST ZOOL,DEPT GENET & EVOLUT,PL-30060 KRAKOW,POLAND
来源：
FOLIA HISTOCHEMICA ET CYTOBIOLOGICA | 1997年 / 35卷 / 03期
关键词：
fragile X syndrome; genetic anticipation; CGG repeat; FMR1; gene;
D O I：
暂无
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：
The currently available data concerning the fragile X syndrome are reviewed in this paper. The topics discussed are: (1) the phenotype of the mutation (including appearance, behavioural changes and mental retardation) and its cytogenetic features, (2) examples and hypotheses of atypical inheritance (genetic anticipation, Sherman paradox and X-inactivation-dependent mechanism giving rise tn this disease), (3) molecular studies (the expansion of the CGG repeat as the cause of the instability of the fragile X chromosome), (4) the FMR1 gene- its possible role, expression and proteins and (5) diagnosis and tests of the fragile X syndrome.
引用
收藏
页码：135 / 141
页数：7
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