亨廷顿病3个家系的初步分析  

Preliminary Analysis of Three Families with Huntington's Disease

作　　者：杨立新 董春慧 张梅[1] 胡海 李亚强 YANG Lixin;DONG Chunhui;ZHANG Mei;HU Hai;LI Yaqiang(The First Affiliated Hospital of Anhui University of Science and Technology,Huainan Anhui 232007,China)

机构地区：[1]安徽理工大学第一附属医院,安徽淮南232007

出　　处：《安徽理工大学学报（自然科学版）》2023年第3期99-108,共10页Journal of Anhui University of Science and Technology:Natural Science

摘　　要：目的对安徽理工大学第一附属医院收治的3例拟诊为亨廷顿病的患者及其家系成员进行HTT基因检测,并探讨临床表型与HTT基因(CAG)n三核苷酸拷贝数之间的关系,通过多维认知功能量表评估认知功能状况,以期为临床治疗策略的优化提供一定的参考。方法收集家系成员临床资料,并绘制完整的家系图,采外周肘静脉血(EDTA抗凝),提取基因组DNA,用PCR-毛细血管电泳法进行检测,运用多维认知功能量表对患者的认知功能进行评估,选择3名不同家系的无精神障碍的健康志愿者作为量表对照。结果家系1共4人患病,先证者的HTT基因外显子的(CAG)n三核苷酸拷贝数存在异常扩增为43次,其女(CAG)n拷贝数存在异常扩增为44次;家系2共4人患病,先证者的(CAG)n拷贝数存在异常扩增为47次,其子(CAG)n拷贝数为48次。家系3共5人患病,先证者的(CAG)n拷贝数存在异常扩增为48次;相较于正常人的量表体系评估中,MoCA量表、Rey-听觉词语学习测试(短时记忆)和符号数字模式测试量表对于捕捉HD患者的认知缺陷的敏感性高于其他量表,差异有统计学意义(P<0.05)。结论再次验证亨廷顿病的临床表现和基因检测符合遗传病的基本特征,制定的多维度认知评估量表可以在一定程度上反映本次受试者在认知方面缺陷,尤其体现在短期记忆和注意力方面。Objective HTT gene detection was performed in three patients with suspected Huntington's disease admitted to the First Affiliated Hospital of Anhui University of Science and Technology and their family members,and the relationship between the clinical phenotype and the(CAG)n trinucleotide copy number of HTT gene was explored.The cognitive function was evaluated by multidimensional scale of cognitive function.Therefore,it is hoped to provide some reference for the optimization of clinical treatment strategies.Methods Genomic DNA was extracted from peripheral elbow venous blood(EDTA anticoagulated)and detected by PCR-capillary electrophoresis.The cognitive function of the patients was evaluated by the multidimensional scale of cognitive function,and three healthy volunteers from different families were selected as the scale control.Results There were 4 patients in family 1 with the disease.The(CAG)n trinucleotide copy number of the exon of HTT gene of the proband was abnormally amplified for 43 times,and that of the female(CAG)n copy number was abnormally amplified for 44 times.A total of 4 patients in family 2 were infected,and the(CAG)n copy number of proband was abnormally amplified for 47 times.The number of copies of CAG n was 48.A total of 5 patients in family 3 were infected,and the(CAG)n copy number of proband was abnormally amplified for 48 times.Compared with the scale system assessment of normal people,the sensitivity of MoCA scale,Rey-Auditory word learning test(short-term memory)and symbolic number pattern test scale to capture the cognitive deficits of HD patients was higher than that of other scales,the difference was statistically significant(P<0.05).Conclusion It was again verified that the clinical manifestations of Huntington's disease and the genetic test were consistent with the basic characteristics of the genetic disease.The developed multidimensionalt scale of cognitive assessment could reflect the cognitive defects of the subjects to some extent,especially in the aspects of short-term memor

关 键 词：亨廷顿病 HTT基因 拷贝数 多维认知量表 

分 类 号：R446.5[医药卫生—诊断学]