脆性X染色体E相关基因与智力迟钝
FRAXE and mental retardation.
作者信息
Mulley J C, Yu S, Loesch D Z, Hay D A, Donnelly A, Gedeon A K, Carbonell P, López I, Glover G, Gabarrón I
机构信息
Centre for Medical Genetics, Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.
出版信息
J Med Genet. 1995 Mar;32(3):162-9. doi: 10.1136/jmg.32.3.162.
Abstract
Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was found within one of these kindreds. Cytogenetic expression of FRAXE was shown to skip a generation when associated with a reduction in size of the CCG expansion when transmitted through a male; however, in general, transmission occurred through females and a copy number increased from one generation to the next. In these respects the behaviour of FRAXE paralleled that of FRAXA. A relationship between FRAXE and non-specific mental impairment is strongly suggested by the occurrence in these families of more mentally impaired male and female carriers, after removal of index cases, than could reasonably be expected by chance.
摘要
在六个家族中描述了FRAXE处CCG重复序列的智力损害和不稳定性。在其中一个家族中发现了FRAXA和FRAXE的共分离现象。当通过男性传递时，FRAXE的细胞遗传学表达显示与CCG扩增大小的减少相关时会跳过一代；然而，一般来说，传递是通过女性进行的，并且拷贝数从一代到下一代会增加。在这些方面，FRAXE的行为与FRAXA相似。这些家族中，去除索引病例后，智力受损的男性和女性携带者比偶然预期的要多，这强烈表明FRAXE与非特异性智力损害之间存在关联。
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