Stability of the Huntington disease (CAG)n repeat in a late onset form occuring on the Island of Crete.
Stability of the Huntington disease (CAG)n repeat in a late onset form occuring on the Island of Crete.
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克里特岛晚发型亨廷顿病 (CAG) 重复的稳定性。
DOI：
10.1093/hmg/4.12.2239
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发表时间：
1995
影响因子：
3.5
通讯作者：
Plaitakis,A
中科院分区：
文献类型：
--
作者：
Tzagournissakis,M;Fesdjian,CO;Shashidharan,P;Plaitakis,A
亨廷顿病（HD）是一种中年发病的常染色体显性遗传疾病，其特征为舞蹈病、痴呆和眼部障碍。预期是常见的HD家庭，特别是当疾病是通过父亲遗传。该疾病与IT 15基因中的扩展（CAG）n重复序列相关，该重复序列不稳定，并且在减数分裂传递过程中倾向于增加大小，特别是父系起源。我们在克里特岛上发现了一种不寻常的HD形式，具有明显不同的特征。来自8个家族共48例HD患者的数据显示，HD发病的中位年龄比全球发生的HD晚15-20岁。没有青少年案件，也没有预期。12例HD患者的DNA分析显示，（CAG）n重复扩增，其大小在每个家族的成员之间是相同的，或仅相差一个单位。延长的DNA片段在父系和母系传递过程中稳定传递或收缩，从而表明独特的分子机制可能在这种形式的HD中起作用。
Huntington disease (HD) is an autosomal-dominant disorder of mid-life onset characterized by chorea, dementia, and oculomotor disturbances. Anticipation is commonly seen in HD families, particularly when the disease is inherited through the father. The disorder is associated with an expanded (CAG)n repeat in the IT15 gene that is unstable and tends to increase in size during meiotic transmissions, particularly of paternal origin. We have detected an unusual form of HD on the island of Crete which has distinctly different characteristics. Data from eight famlies encompassing 48 HD patients, showed a median age at onset 15–20 years later than that for HD occuring worldwide. There were no juvenile cases and no anticipation. DNA analysis in 12 HD patients showed expansion of the (CAG)n repeat the size of which was identical among members of each family or varied by only one unit. The elongated DNA segment was passed stably or contracted during both paternal and maternal transmissions thus indicating that unique molecular mechanisms may be operational in this form of HD.