HD is caused by a trinucleotide repeat expansion in the Huntingtin (Htt) gene; and is one of several polyglutamine (or PolyQ) diseases.
什'少年亨廷顿疾病-遗传疾病与异常运动和心化'?
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Other times it can be a gene mutations, like BRCA1, or in a syndrome like Fragile X syndrome, which is caused by the expansion of a trinucleotide repeat within a gene on the X chromosome.
某些情况下可因突变,如BRCA1;也可像性X染色体征这样征,这由于X染色体上某因内三核苷酸重复扩增引起。
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