PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME
PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME
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DOI：
10.1016/0092-8674(91)90514-y
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发表时间：
1991-02-22
期刊：
影响因子：
64.5
通讯作者：
DAVIES, KE
中科院分区：
文献类型：
--
作者：
BELL, MV;HIRST, MC;DAVIES, KE
继唐氏综合症之后，最常见的智力低下遗传原因是脆性X综合症，与Xq27.3处脆性位点的出现有关。这种X连锁疾病是有趣的，因为传播可以通过表型正常的男性发生。解释这种不寻常现象的理论包括基因组重排和甲基化变化，这些变化与X染色体的局部重新激活有关。使用显微标记接近脆性网站，我们已经能够测试这些假设。我们提出了甲基化与疾病表达相关的证据。然而，甲基化程度与脆性位点的表达水平或临床表型的严重程度之间没有简单的关系。
The most common genetic cause of mental retardation after Down's syndrome, the fragile X syndrome, is associated with the occurrence of a fragile site at Xq27.3. This X-linked disease is intriguing because transmission can occur through phenotypically normal males. Theories to explain this unusual phenomenon include genomic rearrangements and methylation changes associated with a local block of reactivation of the X chromosome. Using microdissected markers close to the fragile site, we have been able to test these hypotheses. We present evidence for the association of methylation with the expression of the disease. However, there is no simple relationship between the degree of methylation and either the level of expression of the fragile site or the severity of the clinical phenotype.