Loesch Danuta Z, Huggins Richard M, Hagerman Randi J
School of Psychological Science, La Trobe University, Melbourne, Australia.
Ment Retard Dev Disabil Res Rev. 2004;10(1):31-41. doi: 10.1002/mrdd.20006.
Data on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene-specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly significant associations in males between FMRP levels and the Wechsler summary and subtest scores and in females between these levels and the full-scale intelligence quotient (FSIQ), verbal and performance IQ, and some Wechsler subtest scores. The published results based on data from 144 extended families with fragile X, recruited from Australia and the United States within a collaborative NIH-supported project, were obtained using robust modification of maximum likelihood in pedigrees. The results indicated that processing speed, short-term memory, and the ability to control attention, especially in the context of regulating goal-directed behavior, may be primarily affected by the FMRP depletion. The effect of this depletion on physical phenotype was also demonstrated, especially on body and head height and extensibility of finger joints. It is recommended that further studies should rely on more accurate measures of FMRP levels, and use of larger samples, to overcome extensive variability in the data.
本文呈现并讨论了认知和身体表型与脆性X智力低下1（FMR1）基因特异性蛋白产物FMRP缺乏之间关系的数据，并结合早期研究结果进行了分析。使用标准回归和相关程序获得的此前未发表的结果显示，在男性中，FMRP水平与韦氏综合及子测验分数之间存在高度显著的关联；在女性中，FMRP水平与全量表智商（FSIQ）、言语和操作智商以及一些韦氏子测验分数之间也存在高度显著的关联。基于美国国立卫生研究院（NIH）支持的一个合作项目从澳大利亚和美国招募的144个脆性X扩展家系的数据发表的结果，是通过对家系中最大似然法进行稳健修正而获得的。结果表明，处理速度、短期记忆以及控制注意力的能力，尤其是在调节目标导向行为的背景下，可能主要受到FMRP缺失的影响。这种缺失对身体表型的影响也得到了证实，特别是对身高和手指关节的伸展性。建议进一步的研究应依赖更准确的FMRP水平测量方法，并使用更大的样本，以克服数据中的广泛变异性。
