脆性X综合征的认知与分子层面

Cognitive and molecular aspects of fragile X.

作者信息

Hinton V J, Halperin J M, Dobkin C S, Ding X H, Brown W T, Miezejeski C M

机构信息

Queens College, Graduate School, City University of New York, NY, USA.

出版信息

J Clin Exp Neuropsychol. 1995 Aug;17(4):518-28. doi: 10.1080/01688639508405142.

DOI:10.1080/01688639508405142

PMID:7593472

Abstract

The relationships among parental origin of the fragile X gene, gene structure, and specific cognitive deficits were evaluated in nonretarded adult female fragile X carriers to determine whether: (1) origin influences gene structure and cognitive function, (2) mild cognitive impairments are associated with altered gene structure, and (3) specific cognitive domains are affected. Results indicated that 56% of women with maternally inherited, but none with paternally inherited, fragile X showed large genomic structural alterations and selective deficits on measures of visual attention. Thus, molecular status of the fragile X gene appears to be linked to parental origin and may selectively affect specific cognitive skills.

摘要

在未患精神发育迟滞的成年女性脆性X携带者中，评估了脆性X基因的亲本来源、基因结构和特定认知缺陷之间的关系，以确定：（1）亲本来源是否影响基因结构和认知功能；（2）轻度认知障碍是否与基因结构改变有关；（3）特定认知领域是否受到影响。结果表明，56%的母系遗传脆性X女性出现了大的基因组结构改变，而父系遗传脆性X的女性无一出现这种情况，并且这些母系遗传脆性X女性在视觉注意力测试中存在选择性缺陷。因此，脆性X基因的分子状态似乎与亲本来源有关，并且可能选择性地影响特定的认知技能。