FMR1 premutation allele (CGG)(81) is stable in mice

被引：40

作者：

Bontekoe, CJM ^{[1
]}

deGraaff, E ^{[1
]}

Nieuwenhuizen, IM ^{[1
]}

Willemsen, R ^{[1
]}

Oostra, BA ^{[1
]}

机构：

[1] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,MGC,NL-3000 DR ROTTERDAM,NETHERLANDS

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1997年 / 5卷 / 05期

关键词：

fragile X syndrome; FMR1; gene; premutation; repeat stability; transgenic mouse;

D O I：

10.1159/000484780

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 caused by an expansion of the CGG repeat present in the 5' UTR of the FI gene. A lot has been elucidated about the genetics of the disease, but not much is known about the mechanisms involved in repeat instability. Transgenic animals with a premutation allele [(CGG)(11)AGG (CGG)(60)CAG(CGG)(8)] in the human FMR1 promoter were generated to study the inheritance of this repeat in mice. Three independent lines, B6, B7 and B29, in total 263 transgenic animals, were tested for repeat instability. In all meiosis and mitosis tested, the repeat inherited stably. This suggests that other factors might be important in repeat (in)stability.

引用

页码：293 / 298

页数：6

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