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首页> 外文期刊>Annals of Human Genetics >Investigating the Relationship Between FMR1 Allele Length and Cognitive Ability in Children: A Subtle Effect of the Normal Allele Range on the Normal Ability Range?
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Investigating the Relationship Between FMR1 Allele Length and Cognitive Ability in Children: A Subtle Effect of the Normal Allele Range on the Normal Ability Range?

机译：研究FMR1等位基因长度与儿童认知能力之间的关系：正常等位基因范围对正常能力范围的微妙影响？

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摘要

The FMR1 gene contains a txinucleotide repeat tract which can expand from a normal size of around 30 repeats to over 200 repeats, causing mental retardation (Fragile X Syndrome). Evidence suggests that premutation males (55-200 repeats) are susceptible to a late-onset tremor/ataxia syndrome and females to premature ovarian failure, and that intermediate alleles (~ 41-55 repeats) and premutations may be in excess in samples with special educational needs. We explored the relationship between FMR1 allele length and cognitive ability in 621 low ability and control children assessed at 4 and 7 years, as well as 122 students with high IQ. The low and high ability and control samples showed no between-group differences in incidence of longer alleles. In males there was a significant negative correlation between allele length and non-verbal ability at 4 years (p = 0,048), academic achievement in maths (p = 0.003) and English (p = 0.011) at 7 years, and IQ in the high ability group (p = 0.018). There was a significant negative correlation between allele length and a standardised score for IQ and general cognitive ability at age 7 in the entire male sample (p = 0.002), This suggests that, -within the normal spectrum of allele length, increased repeat numbers may have a limiting influence on cognitive performance.
机译：FMR1基因包含一个txinucleotide重复序列，可以从正常的30个重复序列扩展到200多个重复序列，从而导致智力低下（脆性X综合征）。有证据表明，突变前的男性（55-200个重复序列）易患迟发性震颤/共济失调综合症，女性易发生卵巢早衰，中间等位基因（〜41-55个重复序列）和突变在具有特殊特征的样本中可能过多。教育需求。我们探讨了在4和7岁时评估的621名低能力和控制儿童以及122名高智商学生中FMR1等位基因长度与认知能力之间的关系。低能力和高能力样品及对照样品在较长等位基因的发生率上没有组间差异。男性在4岁时的等位基因长度和非语言能力（p = 0,048），7岁时的数学学习成绩（p = 0.003）和英语（p = 0.011）与高智商之间显着负相关能力组（p = 0.018）。在整个男性样本中，等位基因长度与7岁时智商和一般认知能力的标准化评分之间存在显着的负相关性（p = 0.002），这表明-在等位基因长度的正常范围内，重复次数可能增加对认知能力的影响有限。

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