中国西南一城市智力低下人群中脆性X综合征发病率调查（英文）

An investigation for the incidence of fragile X syndrome in mentally retarded patients in a Southwest Chinese city

目的探讨中国西南地区智力低下人群中脆性X综合征(fragile X syndrome,FXS)发病率。方法通过一种可检测脆性X智力低下基因1(fragile X mental retardation 1,FMR1)上CGG重复序列长度的聚合酶链反应方法,对中国西南一城市智力低下人群进行脆性X综合征的筛查,探讨智力低下人群中脆性X综合征的发病率。结果研究样本发现,频率最高的CGG重复数是29个CGG重复,其次为30和31个CGG重复,再其次为36和37个CGG重复;CGG等位基因频率分布形式与中国其它地区的研究结果一致;但没有发现前突变和全突变病人。结论中国西南地区智力低下人群中脆性X综合征发病率可能低于华中及华北地区的报道人群。

Objective To investigate the incidence of fragile X syndrome（FXS） in mentally retarded patients in Southwest China.Methods We adopted one polymerase chain reaction（PCR） assay allowing to determine the CGG repeat length of the FMR1 gene to carry out a screening test for FXS in mentally retarded patients in a Southwest Chinese city,so as to evaluate the incidence of FXS in mentally retarded patients.Results We found that the most frequent CGG repeat allele was 29 repeats,followed by 30 and 31 repeats,and there was a secondary peak at 36 and 37 repeats.These findings were consistent with those of other studies for the CGG-repeat distribution pattern in Chinese populations.But none subject was examined to have a full mutation or premutation in the present studies.Conclusion The prevalence of FXS in mentally retarded patients in southwest China is estimated to be less than that of previously reported in North and Central China.