FMR1 CGG expansions: prevalence and sex ratios.
FMR1 CGG expansions: prevalence and sex ratios.
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FMR1 CGG扩展：患病率和性别比。
DOI：
10.1002/ajmg.b.32176
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发表时间：
2013-07
影响因子：
2.8
通讯作者：
Mailick, Marsha R.
中科院分区：
文献类型：
--
作者：
Maenner, Matthew J.;Baker, Mei W.;Broman, Karl W.;Tian, Jianan;Barnes, Janel K.;Atkins, Anne;McPherson, Elizabeth;Hong, Jinkuk;Brilliant, Murray H.;Mailick, Marsha R.
我们在威斯康星州19996名男性和女性的人群样本中估计了FMR1前突变和灰区CGG重复扩增的患病率，并将观察到的FMR1 CGG预突变和灰区扩增的性别比与理论性别比进行了比较。女性前突变患病率为1/148，与过去的研究相当，但男性前突变患病率为每290人中有1人，略高于大多数先前的估计。女性：男性前突变患病率符合理论预测的性别比。在灰色地带(45-54重复)CGG重复的发生率为1/33女性和1/62男性。“扩大的”灰色地带(这里定义为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率为1.62(95%可信区间1.39-1.90)。这一男女比例明显低于预期的2.0比。我们检查了之前发表的三项FMR1流行率研究的结果，发现CGG重复的女性：男性比例在这个“扩大的”灰色区域范围内相似(所有四项研究的合并女性：男性比例为1.66，95%可信区间为1.51-1.82)。需要进一步的研究来了解CGG重复在这个范围内的男性的明显过度患病率。
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.
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影响因子：
2
作者：
Berry-Kravis, Elizabeth;Goetz, Christopher G.;Hagerman, Paul J.
通讯作者：
Hagerman, Paul J.
影响因子：
9.9
作者：
Cornish, Kim M.;Hocking, Darren R.;Kogan, Cary S.
通讯作者：
Kogan, Cary S.
影响因子：
2.3
作者：
McCarty, Catherine A;Wilke, Russell A;Caldwell, Michael D
通讯作者：
Caldwell, Michael D
DOI：
10.1002/ajmg.b.30910
发表时间：
2009-09-05
影响因子：
2.8
作者：
Brouwer, J. R.;Willemsen, R.;Oostra, B. A.
通讯作者：
Oostra, B. A.
影响因子：
8.6
作者：
Hall, Deborah A.;Berry-Kravis, Elizabeth;Leehey, Maureen A.
通讯作者：
Leehey, Maureen A.