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采用PCR技术结合变性序列胶银染检测方法，对150例正常人计242条X染色体脆性X-E位点（FRAXE）三核苷酸（GCC）n重复序列进行了分析，结果显示正常人（GCC）n重复分布具有多态性，在7－25之间，最多见的重复数为15（占31．4％），正常女性杂合子频率为73．9％，与文献报道极为相似；同时还对169例智力低下疑诊病例进行了FRAXE病的初步筛查，结果表明绝大部分（87．0％）被检者可排除本病，小部分病例须进一步采取Southern印迹杂交分析才能作出正确判断。该方法可用于FRAXE病的群体筛查。
A total of 242 human X-chromosome FRXE trinucleotide (GCC) n repeats of 150 normal individuals were analyzed by polymerase chain reaction (PCR) and denaturing gel electrophoresis. The results showed that normal human (GCC) n Repeated distribution of polymorphism between 7-25, the most common number of 15 (31.4%), normal female heterozygote frequency of 73.9%, very similar with the literature reported; at the same time A total of 169 suspected cases of hypoplasia were screened for FRAXE disease. The results showed that the vast majority (87.0%) of the subjects were excluded from the disease, and a small proportion of cases were subject to further Southern blot analysis to make correct judgments. This method can be used for population screening of FRAXE disease.