脆性X智力低下基因1前突变等位基因（CGG）81在小鼠中是稳定的。
FMR1 premutation allele (CGG)81 is stable in mice.
作者信息
Bontekoe C J, de Graaff E, Nieuwenhuizen I M, Willemsen R, Oostra B A
机构信息
MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
出版信息
Eur J Hum Genet. 1997 Sep-Oct;5(5):293-8.
Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5' UTR of the FMR1 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)11AGG(CGG)60CAG(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.
脆性X综合征由FMR1基因5'非翻译区存在的CGG重复序列扩增引起。关于该疾病的遗传学已经阐明了很多，但对于重复序列不稳定性所涉及的机制了解不多。构建了在人类FMR1启动子中带有前突变等位基因[（CGG）11AGG（CGG）60CAG（CGG）8]的转基因动物，以研究该重复序列在小鼠中的遗传情况。对三个独立品系B6、B7和B29，总共263只转基因动物进行了重复序列不稳定性测试。在所有测试的减数分裂和有丝分裂中，该重复序列稳定遗传。这表明其他因素可能在重复序列（不）稳定性中起重要作用。
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