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标记X染色体的杂合子女性携带者:脆性X染色体(q)的智商估计及复制状态

Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).

作者信息

Paul J, Froster-Iskenius U, Moje W, Schwinger E

出版信息

Hum Genet. 1984;66(4):344-6. doi: 10.1007/BF00287638.

Abstract

The IQ levels of 18 female carriers with the marker X chromosome were evaluated, and cytogenetic studies after BrdU incorporation were performed. A highly significant correlation between mental capacity and replication pattern of the X chromosomes could be demonstrated. Heterozygous females with normal intelligence showed a clear tendency to carry the fragile site at the late replicating X chromosome, while other female carriers with lower intelligence or mental impairment expressed their fragile site mainly with the early replicating X chromosome. This observation could be interpreted as an expression of Lyonisation .

摘要

对18名携带标记X染色体的女性携带者的智商水平进行了评估,并在掺入BrdU后进行了细胞遗传学研究。结果表明,智力水平与X染色体的复制模式之间存在高度显著的相关性。智力正常的杂合女性明显倾向于在晚复制的X染色体上携带脆性位点,而其他智力较低或有精神障碍的女性携带者则主要在早复制的X染色体上表达其脆性位点。这一观察结果可解释为莱昂化的一种表现。

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