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首页> 外文期刊>Genetics in medicine >FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.

机译：接受常规人群基础载体筛查的患者中FMR1突变的载频：对脆性X综合征，脆性X相关性震颤/共济失调和脆性X相关性卵巢原发性供血不足的见解。

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PURPOSE: Fragile X syndrome is caused by expansion and methylation of a CGG tract in the 5' untranslated region of the FMR1 gene. The estimated frequency of expanded alleles (>/=55 repeats) in the United States is 1:257-1:382, but these estimates were not calculated from unbiased populations. We sought to determine the frequency of fragile X syndrome premutation (55-200 repeats) and full mutation (>200 repeats) alleles in nonselected, unbiased populations undergoing routine carrier screening for other diseases. METHODS: A previously validated laboratory-developed test using triplet-primed polymerase chain reaction was used to detect premutation and full mutation alleles in an unselected series of 11,759 consecutive cystic fibrosis carrier screening samples and 2011 samples submitted for screening for genetic diseases prevalent among the Ashkenazi Jewish population. RESULTS: Premutations were identified in 48 cystic fibrosis screening samples (1:245) and 15 samples (1:134) from the Ashkenazi Jewish population. Adjusted for the ethnic mix of the US population and self-reported ethnicity in our screening population, the estimated female premutation carrier frequency in the United States was 1:178. The calculated frequency of full mutation alleles was 1:3335 overall, and the calculated premutation frequency in males was 1:400. Based on frequency of larger, >/=70 repeat alleles, and reported penetrance, the calculated fragile X-associated tremor and ataxia syndrome, and fragile X-associated primary ovarian insufficiency frequencies is 1:4848 and 1:3560, respectively. CONCLUSION: Our calculated fragile X syndrome carrier rate is higher than previous estimates for the US population and warrants further consideration of population-based carrier screening.
机译：目的：脆性X综合征是由FMR1基因的5'非翻译区中的CGG束的扩张和甲基化引起的。在美国，扩增的等位基因（> / = 55个重复序列）的估计频率为1：257-1：382，但这些估计值并非来自无偏见群体。我们试图确定接受常规筛查其他疾病的非选择，无偏见人群中脆性X综合征预突变（55-200个重复）和全突变（> 200个重复）等位基因的频率。方法：使用未经验证的实验室开发的测试方法，该测试方法通过三联体引发的聚合酶链反应用于检测未经选择的一系列11759例连续性囊性纤维化携带者筛查样本和2011年提交的用于筛查阿什肯纳兹流行的遗传疾病的样本中的突变和全突变等位基因犹太人口。结果：在Ashkenazi犹太人的48个囊性纤维化筛查样本（1：245）和15个样本（1：134）中鉴定出了突变。根据美国人口的种族混合情况和筛查人群中的自我报告的种族进行调整后，美国估计的女性变异前携带者频率为1：178。完全突变等位基因的计算频率总体为1：3335，男性的计算前突变频率为1：400。根据更大，> / = 70个重复等位基因的频率和已报告的外显率，计算得出的脆性X相关震颤和共济失调综合征以及脆性X相关的卵巢原发性供血不足频率分别为1：4848和1：3560。结论：我们计算得出的易碎X综合征携带者比率高于先前对美国人群的估计，因此有必要进一步考虑基于人群的携带者筛查。

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