为什么说脆性X综合征是染??不是基因突变的吗?应该是单基因病才对
为什么说是染色体病!! 展开
从列表中你可以看到这个FMR1基因位于Xq27.3
A number sign (#) is used with this entry because fragile X mental retardation syndrome is caused by mutation in the FMR1 gene (309550). The vast majority of cases are caused by a trinucleotide (CGG)n repeat expansion (309550.0004) of greater than 200 repeats.
这里的#是说表型编号300624,这种综合征是由FMR1基因突变所致( mutation in the FMR1 gene),最重要的原因是(CGG)n repeat expansion,这里的N值至少大于200。
See also fragile X tremor/ataxia syndrome (FXTAS; 300623), which is caused by expanded FMR1 (CGG)n repeats that range in size from 55 to 200 repeats and are referred to as 'premutations.'
你也会看到编号为300623的 fragile X tremor/ataxia综合征,它是由于FMR1(CGG)n 介于55和200之间的重复引起的,这种突变就准突变。
由此看来它确实是单基因遗传病,但确实是在染色体X的q27.3位置,is that clear?
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