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Huntington氏病(HD)基因是位于4p16.3区域内的一个大的基因IT15,长180kd,开放阅读框包括9432个碱基。其特点是在 5’端有一多态性三核苷酸重复顺序(CAG)n的扩增。而这种三核苷酸重复顺序扩增不但可以在HD中出现,而且在其它遗传性疾病中出现,如X-脆性综合征、强直性肌营养不良。Kennedy综合征。HD患者IT15(CAG)n重复顺序扩增在36~121个拷贝之间,平均42~460正常从在9~39之间,平均18~19个拷贝数。母源性
The Huntington’s disease (HD) gene is a large gene IT15 located in the 4p16.3 region, 180 kd long, and the open reading frame contains 9,432 bases. It is characterized by amplification of a polymorphic trinucleotide repeat (CAG) n at the 5 ’end. This trinucleotide repeat amplification is not only found in HD but also in other hereditary diseases such as X-brittle syndrome and myotonic dystrophy. Kennedy syndrome. The repeat sequence amplification of IT15 (CAG) n in HD patients ranged from 36 to 121 copies, with an average of 42 to 460 normalized from 9 to 39 with an average of 18 to 19 copies. Maternal