Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls
Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls
复制标题
中国亨廷顿病患者和对照人群亨廷顿基因CAG重复次数
DOI：
10.1111/ene.12366
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发表时间：
2014-04-01
影响因子：
5.1
通讯作者：
Burgunder, J. -M.
中科院分区：
文献类型：
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作者：
Jiang, H.;Sun, Y. M.;Burgunder, J. -M.
背景和目的亨廷顿舞蹈病是由于亨廷顿基因CAG三联重复序列延长引起的.在有和没有将疾病传给下一代的风险的健康人之间，以及在没有、轻度或完全外显表型的人之间，发现CAG数量的边界。这些数据已在西方人群中产生，目前还不清楚他们是否也是有效的之间Chinese.MethodsIn建立规范的数据在亨廷顿基因为中国人，966染色体正常对照进行了测试。此外，CAG重复序列的范围进行了检查，在一个队列从6个中心，共368例患者的疾病included.ResultsThe CAG三重重复序列范围在正常对照组之间的9和35（平均值18.9，SD 2.57）。2.5%的三胞胎年龄在26岁至35岁之间。在患者队列中，较短等位基因中的三联体重复在8和37之间（平均值17.7，SD 1.6）。在较长的等位基因中，三重重复数的范围在36 ~ 120之间，发病年龄与较大等位基因的三重重复数呈负相关（-0.65，r =0.42）。平均发病年龄为38岁，范围为2 - 70岁。在23例（6%）的儿童或青少年发病noted.ConclusionThese数据显示可比范围的亨廷顿基因CAG三重重复序列在正常人和亨廷顿病患者在西方人群。
Background and purposeHuntington's disease is due to a CAG triplet repeat elongation in the huntingtin gene. Boundaries in CAG numbers have been found between healthy people with and without risk to pass the disorder to the next generation, and between people without, with a mild, or with a fully penetrant phenotype. These data have been generated in western populations and it is not clear whether they are also valid amongst Chinese.MethodsIn order to establish normative data in the huntingtin gene for Chinese people, 966 chromosomes from normal controls were tested. Further, the range of CAG repeats was examined in a cohort from six centres and a total of 368 patients with the disease were included.ResultsThe CAG triplet repeat range in normal controls was between 9 and 35 (mean 18.9, SD 2.57). Triplets in the range between 26 and 35 were found in 2.5%. In the patient cohort, triplet repeats in the shorter allele were between 8 and 37 (mean 17.7, SD 1.6). In the longer allele, a range between 36 and 120 was found. There was a negative correlation (-0.65, r=0.42) between age at onset and the number of triplet repeats in the larger allele. The mean age at onset was 38years, with a range between 2 and 70years. In 23 patients (6%) a childhood or juvenile onset was noted.ConclusionThese data show comparable ranges of huntingtin gene CAG triplet repeats in normal people and in patients with Huntington's disease as in western populations.