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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >An n-allele model for progressive amplification in the FMR1 locus.
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An n-allele model for progressive amplification in the FMR1 locus.

机译：FMR1基因座中进行性扩增的n等位基因模型。

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摘要

An n-allele model is developed for the FMR1 locus, which causes the fragile X syndrome, where n is the number of triplet repeats in the first exon. Frequencies in the general population and in index families are used to generate an n to n + delta transition matrix that predicts specific risks in satisfactory agreement with observation. However, until sequencing distinguishes between stable and unstable alleles with the same value of n, it is premature to infer whether allelic frequencies at the FMR1 locus are at equilibrium or, as some have suggested, are evolving toward higher frequencies of the pathogenic allele.
机译：针对FMR1基因座开发了n等位基因模型，该模型会导致脆弱的X综合征，其中n是第一个外显子中三联体重复的数目。一般人群和指数族的频率用于生成n到n +增量转换矩阵，该矩阵可预测与观察结果令人满意的特定风险。但是，直到测序能够区分出具有相同n值的稳定等位基因和不稳定等位基因之前，尚无法推断FMR1基因座的等位基因频率是否处于平衡状态，或者正向某些病原体等位基因的更高频率发展。

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