FMR1基因座渐进性扩增的n等位基因模型。
An n-allele model for progressive amplification in the FMR1 locus.
作者信息
Morris A, Morton N E, Collins A, Macpherson J, Nelson D, Sherman S
机构信息
Human Genetics Group, University of Southampton, Level G, Princess Anne Hospital, United Kingdom.
出版信息
Proc Natl Acad Sci U S A. 1995 May 23;92(11):4833-7. doi: 10.1073/pnas.92.11.4833.
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.
针对导致脆性X综合征的FMR1基因座开发了一种n等位基因模型，其中n是第一个外显子中三联体重复序列的数量。使用一般人群和索引家族中的频率来生成一个n到n + δ的转移矩阵，该矩阵预测的特定风险与观察结果吻合良好。然而，在测序能够区分具有相同n值的稳定和不稳定等位基因之前，推断FMR1基因座的等位基因频率是否处于平衡状态，或者如一些人所建议的那样，是否正在朝着致病等位基因的更高频率演变，还为时过早。
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