Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):466-73. doi: 10.1002/ajmg.b.32176. Epub 2013 Jun 5.
We have estimated the prevalence of FMR1 premutation and gray zone CGG repeat expansions in a population-based sample of 19,996 male and female adults in Wisconsin and compared the observed sex ratios of the prevalence of FMR1 CGG premutation and gray zone expansions to theoretical sex ratios. The female premutation prevalence was 1 in 148 and comparable to past research, but the male premutation prevalence of 1 in 290 is somewhat higher than most previous estimates. The female:male premutation prevalence ratio is in line with the theoretically predicted sex ratio. The prevalence of CGG repeats in the gray zone (45-54 repeats) was 1 in 33 females and 1 in 62 males. The prevalence of the "expanded" gray zone (defined here as 41-54 CGG repeats) was 1 in 14 females and 1 in 22 males, leading to a female:male ratio of 1.62 (95% confidence interval 1.39-1.90). This female:male ratio was significantly lower than the expected ratio of 2.0. We examined results from three previously published FMR1 prevalence studies and found similar female:male ratios for CGG repeats in this "expanded" gray zone range (pooled female:male ratio across all four studies 1.66, 95% confidence interval 1.51-1.82). Further research is needed to understand the apparent excess prevalence of males with CGG repeats in this range.
我们在威斯康星州的一个基于人群的 19996 名男性和女性成年人样本中估计了 FMR1 前突变和灰色区 CGG 重复扩展的流行率，并将观察到的 FMR1 CGG 前突变和灰色区扩展的患病率的性别比例与理论性别比例进行了比较。女性前突变患病率为 1/148，与以往的研究相当，但男性前突变患病率为 1/290，略高于大多数先前的估计。女性与男性前突变患病率的比例与理论预测的性别比例一致。灰色区（45-54 个重复）的 CGG 重复患病率为 1/33 女性和 1/62 男性。“扩展”灰色区（此处定义为 41-54 个 CGG 重复）的患病率为 1/14 女性和 1/22 男性，导致女性与男性的比例为 1.62（95%置信区间为 1.39-1.90）。这个女性与男性的比例明显低于预期的 2.0。我们检查了之前发表的三项 FMR1 患病率研究的结果，发现这个“扩展”灰色区范围内的 CGG 重复的女性与男性比例相似（四项研究的女性与男性比例的总和为 1.66，95%置信区间为 1.51-1.82）。需要进一步研究来了解在这个范围内男性 CGG 重复明显过多的原因。
