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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 people with mental retardation in Southwest China. Methods A fragile X mental retardation 1 (FMR1) polymerase chain reaction (PCR) method was used to screen fragile X syndrome in people with mental retardation in a city of southwestern China. To investigate the incidence of fragile X syndrome in people with mental retardation. Results The study found that the most frequent CGG repeats were 29 CGG repeats, followed by 30 and 31 CGG repeats, followed by 36 and 37 CGG repeats; the frequency distribution of CGG alleles was consistent with findings from other parts of China Unanimously; however, no mutations were found in the patient and the total mutation. Conclusions The incidence of Fragile X syndrome in people with mental retardation in Southwest China may be lower than those reported in central and northern China.