Rubinsztein D C, Leggo J, Goodburn S, Crow T J, Lofthouse R, DeLisi L E, Barton D E, Ferguson-Smith M A
East Anglian Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
J Med Genet. 1994 Sep;31(9):690-3. doi: 10.1136/jmg.31.9.690.
The CAG repeats in the Huntington's disease gene were investigated in chromosomes from 71 unrelated schizophrenic persons and 18 patients with schizoaffective disorder in order to determine if any of these patients had abnormal expansions. All of the probands had repeat sizes in the normal range (< 35 repeats) and there was no significant difference between the allele distributions of these patients and the normal controls. The families of two patients with 32 repeats and one patient with 34 repeats were investigated further and showed no uniform segregation of the disease with the large repeat alleles. The proband with 34 repeats inherited a chromosome that originally had 36 repeats in her father. The presence of 36 CAG repeats in members of her family and in HD patients suggests that there is an overlap between the normal and Huntington's disease CAG repeat size ranges. The more recently described CCG polymorphism in this gene was also examined in the schizophrenic and schizoaffective persons. All patients had alleles in the normal range.
对71名无亲缘关系的精神分裂症患者和18名分裂情感性障碍患者的染色体进行了亨廷顿舞蹈病基因中CAG重复序列的研究，以确定这些患者中是否有任何异常扩增。所有先证者的重复序列长度均在正常范围内（<35次重复），这些患者与正常对照的等位基因分布之间没有显著差异。对两名有32次重复的患者和一名有34次重复的患者的家族进行了进一步研究，结果显示大重复等位基因与疾病之间没有一致的分离现象。有34次重复的先证者从她父亲那里继承了一条最初有36次重复的染色体。她家族成员和亨廷顿舞蹈病患者中存在36次CAG重复序列，这表明正常和亨廷顿舞蹈病CAG重复序列长度范围之间存在重叠。还对精神分裂症和分裂情感性障碍患者中该基因最近描述的CCG多态性进行了检测。所有患者的等位基因均在正常范围内。
