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应用聚合酶链反应（ＰＣＲ）扩增脆性Ｘ智力低下基因（ＦＭＲ－１）５′侧的二核苷酸重复序列（ｆｒａｇｉｌｅＸＡＣ２ｒｅｐｅａｔ，ＦＲＡＸＡＣ２），通过聚丙烯酰胺凝胶电泳及放射自显影的方法检测扩增产物。结果表明：ＦＲＡＸＡＣ２重复序列在我们所检测的中国人群中共有７种等位片段，其频率分布为０．００４８～０．６０６３。最大多态信息量（ＰＩＣ）为５８％。应用该位点对４个家系进行了单体型连锁分析，表明该方法可用于脆性Ｘ综合征基因诊断和遗传关系研究。
The fragile XAC2repeat (FRAXAC2) on the 5 ’side of the fragile X mental retardation gene (FMR-1) was amplified by polymerase chain reaction (PCR) and detected by polyacrylamide gel electrophoresis and autoradiography Amplification products. The results showed that: The FRAXAC2 repeat has a total of 7 alleles in the Chinese population we tested, with a frequency distribution of 0.0048 ~ 0.6063. The maximum amount of polymorphic information (PIC) is 58%. The haplotype linkage analysis of four pedigrees was carried out using this locus, indicating that this method can be used for genetic diagnosis and genetic relationship of Fragile X syndrome.