Barron L H, Rae A, Holloway S, Brock D J, Warner J P
Molecular Genetics Service, University of Edinburgh, Western General Hospital, UK.
Hum Mol Genet. 1994 Jan;3(1):173-5. doi: 10.1093/hmg/3.1.173.
The CCG rich sequence immediately 3' to the CAG repeat that is expanded in Huntington's disease (HD) has recently been shown to be polymorphic with at least 4 alleles differing by multiples of 3 bp being found in the normal population. We have studied the allele distribution in 180 HD families resident in Scotland and have found very strong evidence for disequilibrium in this population. For the 131 families where phase was unambiguously determined, 130 were shown to have a CCG repeat allele of 176 bp cosegregating with the HD chromosome. This observation is significantly different to the normal population distribution where 31% of people have an allele of 185 bp. The evidence for and against a possible founder effect in the Scottish HD population is discussed. We propose the hypothesis that we may have identified a region of the IT15 gene that is critical in Huntington's disease.
在亨廷顿舞蹈症（HD）中发生扩增的CAG重复序列3'端紧邻的富含CCG的序列，最近已被证明具有多态性，在正常人群中发现至少有4个等位基因，其差异为3 bp的倍数。我们研究了居住在苏格兰的180个HD家族中的等位基因分布，发现该人群中存在非常有力的不平衡证据。对于131个相位明确确定的家族，其中130个显示有一个176 bp的CCG重复等位基因与HD染色体共分离。这一观察结果与正常人群分布有显著差异，在正常人群中31%的人有一个185 bp的等位基因。讨论了支持和反对苏格兰HD人群中可能存在奠基者效应的证据。我们提出一个假说，即我们可能已经确定了IT15基因中一个对亨廷顿舞蹈症至关重要的区域。
