TRIPLET REPEAT MUTATIONS IN HUMAN-DISEASE
TRIPLET REPEAT MUTATIONS IN HUMAN-DISEASE
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DOI：
10.1126/science.1589758
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发表时间：
1992-05-08
期刊：
影响因子：
56.9
通讯作者：
NELSON, DL
中科院分区：
文献类型：
--
作者：
CASKEY, CT;PIZZUTI, A;NELSON, DL
三联体重复是三种人类遗传性疾病的突变部位，这三种疾病是脊髓和球部肌萎缩症(SBMA)、脆性X综合征和强直性肌营养不良(DM)。这些重复序列在正常人群中富含GC且高度多态。脆性X综合征和糖尿病是一些疾病的例子，在这些疾病中，前突变等位基因在个体中几乎不会引起疾病，但会在受影响的后代中引起显著扩增的重复序列。到目前为止，这种新发现的突变机制已经在两种最常见的遗传性疾病--脆性X综合征和糖尿病--以及一种罕见的疾病--SBMA中被发现。
Triplet repeats are the sites of mutation in three human heritable disorders, spinal and bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These repeats are GC-rich and highly polymorphic in the normal population. Fragile X syndrome and DM are examples of diseases in which premutation alleles cause little or no disease in the individual, but give rise to significantly amplified repeats in affected progeny. This newly identified mechanism of mutation has, so far, been identified in two of the most common heritable disorders, fragile X syndrome and DM, and one rare disease, SBMA.