Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
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DOI：
10.1086/367713
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发表时间：
2003-02-01
影响因子：
9.8
通讯作者：
Sherman, SL
中科院分区：
文献类型：
--
作者：
Nolin, SL;Brown, WT;Sherman, SL
脆性X智力低下1基因(FMR1)5个非翻译区的CGG重复序列在母亲携带前突变等位基因时表现出明显的不稳定性。一个由8个国家的13个实验室组成的合作小组被建立起来，以检查带有前突变(类似于55-200重复)和中间(类似于46-60重复)等位基因的女性中与FMR1 CGG重复不稳定有关的四个问题。我们的主要发现如下：(1)在一个世代内扩展到完全突变(>；200个重复)的最小前突变等位基因包含59个重复；对这两个女性的59个重复等位基因的序列分析显示，FMR1 CGG重复内没有AGG中断。(2)当我们校正确定值并重新计算扩展到完全突变的风险时，我们发现前突变的风险等同于
The CGG repeat in the 5 untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers with premutation alleles. A collaboration of 13 laboratories in eight countries was established to examine four issues concerning FMR1 CGG-repeat instability among females with premutation (similar to55-200 repeats) and intermediate (similar to46-60 repeats) alleles. Our central findings were as follows: (1) The smallest premutation alleles that expanded to a full mutation (>200 repeats) in one generation contained 59 repeats; sequence analysis of the 59-repeat alleles from these two females revealed no AGG interruptions within the FMR1 CGG repeat. (2) When we corrected for ascertainment and recalculated the risks of expansion to a full mutation, we found that the risks for premutation alleles with