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目的探讨 IT15基因 CAG 重复次数与亨廷顿病发病年龄、认知及情感障碍等临床表型之间的关系。方法采用非变性聚丙烯酰胺凝胶电泳及银染法检测29例患者 IT15基因的 CAG 重复次数。采用亨廷顿病统一评定量表(UHDRS)和简易智能精神状态检查量表(MMSE)对患者的运动、智能、精神和执行能力进行评分。结果 29例患者的 IT15基因的基因型均为杂合子,致病 CAG重复次数为40～62,正常 CAG 重复次数为13～28次。致病 CAG 重复次数与发病年龄之间呈负相关(r=-0.539,P<0.01);总体执行能力与精神状态评分(r=-0.642,P<0.01)、运动评分(r=-0.766,P<0.01)呈负相关,与 MMSE 呈正相关(r=0.500,P<0.01)。结论 IT15基因致病 CAG 重复次数只能解释约36%的发病年龄的变化,不能作为预测亨廷顿病发病年龄的独立因子。运动症状、精神和智能障碍的加重,严重影响患者的总体执行能力。
Objective To investigate the relationship between the number of CAG repeats of IT15 gene and the clinical phenotypes such as the age at onset of Huntington’s disease, cognitive and affective disorders. Methods CAG repeat number of IT15 gene in 29 patients was detected by non-denaturing polyacrylamide gel electrophoresis and silver staining. The patient’s motor, intelligence, mental ability and executive ability were scored using the Universal Huntington Disease Rating Scale (UHDRS) and the Mini-Mental State Examination Scale (MMSE). Results The genotypes of IT15 gene in all 29 patients were heterozygous, the number of pathogenic CAGs was 40 ~ 62, and the number of normal CAGs was 13 ~ 28. There was a negative correlation between the number of repeat CAG and the age at onset (r = -0.539, P <0.01). The overall performance and mental status scores (r = -0.642, P <0.01), and positively correlated with MMSE (r = 0.500, P <0.01). Conclusion The number of CAG repeat induced by IT15 gene can only explain the change of age at onset of about 36% and can not be used as an independent factor to predict the age of onset of Huntington disease. Exacerbations of motor symptoms, mental and intellectual disabilities have a serious impact on the overall patient’s ability to perform.