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Huntington病(HD)呈常染色体显性遗传,常在发病后15～20年死亡,尚无有效的治疗方法,HD基因发现之后,许多国家应用基因相关标记进行常规临床服务。HD染色体4p~(16.3)位点的易变基因在(LT15)发现有三核苷酸重复(CAG)的延展,目前可以直接分析这种CAG重复从而进行高精确度的预测。此重复顺列位于基因阅读框的5~’,端99％以上的临床诊断为HD的个体与CAG扩展相关,并有高度特异性,其它类似于临床HD的许多神经精神障碍并没有此基因特征。CAG重复低于37者属罕见,重复30—36个CAG的很可能不发病(中介型等位基因IA),但其后代仍有发病风险,在男性尤是如此。而没有CAG扩展的临床诊为HD者,其后代出
Huntington's disease (HD) is autosomal dominant, often 15 to 20 years after the onset of death, there is no effective treatment, after the discovery of the HD gene, many countries use gene-related markers for routine clinical services. At codon 4p ~ (16.3) of the HD chromosome, a trinucleotide repeat (CAG) extension was found at (LT15). This CAG repeat can now be analyzed directly for high-precision predictions. This repetitive sequence of individuals with a clinically diagnosed HD of more than 99% of the 5 'end of the reading frame is associated with CAG expansion and is highly specific, and many other neuropsychiatric disorders similar to clinical HD do not have this gene signature . CAG repeat less than 37 are rare, repeat 30-36 CAG is very likely not disease (intermediate allele IA), but its offspring are still at risk of onset, especially in males. The clinical diagnosis of CAG without CAG was followed by subsequent generations