亨廷顿舞蹈病四个家系的遗传学特征分析  

Analysis of genetic characteristics of four families with Huntington＇ s disease

作　　者：马建华[1] 张艳[1] 雷晶[1] Ma Jianhua;Zhang Yan;Lei Jing(Department of Neurology, The First Affiliated Hospital to Xinjiang Medical University, Urumqi 830054, Chin)

机构地区：[1]新疆医科大学第一附属医院神经内科,乌鲁木齐830054

出　　处：《中华神经医学杂志》2018年第5期503-506,共4页Chinese Journal of Neuromedicine

基　　金：新疆自治区自然科学基金（2011211A063）

摘　　要：目的探讨亨廷顿舞蹈病（HD）的分子遗传学特征。方法收集新疆医科大学第一附属医院神经内科自2010年8月至2017年6月收治的HD4个家系资料，应用聚合酶链反应（PCR）、毛细管电泳检测4个家系共15名成员日玎基因的CAG三核苷酸重复序列。对检测结果和遗传学特征进行分析。结果4个家系中回族家系1个，汉族家系3个。4名先证者中男性1名，女性3名；发病年龄21-47岁，CAG重复次数为42—62次。症状前患者中男性2名，女性1名；年龄27-31岁，CAG重复次数为4448次。家系中正常成员CAG重复次数为16—20次。结论HD患者经父系遗传过程中存在CAG重复次数扩展及遗传早现现象。Objective To investigate the features of molecular genetics of 4 Huntington＇s disease （HD） pedigrees in Xinjiang. Methods Collected for this study were the data of the HD patients who had been admitted by Department of Neurology, The First Affiliated Hospital to Xinjiang Medical University from August 2010 to June 2017 and the genetic data of their 4 HD pedigrees of altogether 15 members. Their mutations of HTT gene amplification of CAG trinucleotide were detected with the polymerase chain reaction and capillary electrophoresis. Their test results and genetic characteristics were analyzed respectively. Results The 4 pedigrees of HD included 3 Han families and one Hui family. The 4 HD patients confirmed were one male and 3 females; their onset age ranged from 21 to 47 years old; their CAG copy number ranged from 42 to 62 times. The 3 presymptomatic patients were 2 males and one female, aged from 27 to 31 years old; their CAG copy number ranged from 44 to 48 times. The CAG copy number ranged from 16 to 20 times in the normal family members of the 4 HD pedigrees. Conclusions The CAG copy number may be increased and anticipation may exist in the I-ID patients by paternal inheritance.

关 键 词：亨廷顿舞蹈病 三核苷酸重复 分子遗传学 

分 类 号：R742.2[医药卫生—神经病学与精神病学]