不同民族人群FMR1基因CGG重复序列检测与分析

Detection of Variation of CGG Repeats Located in the FMR1 Gene in Different Nationality Populations

目的检测和分析脆性X综合征致病基因FMR1 CGG重复序列在汉族和壮族人群中的多态性分布。方法采用PCR扩增技术和聚丙烯酰胺凝胶电泳技术对1060例汉族人（男280人，女780人）和283例壮族人（男85人，女198人）FMR1基因CGG重复序列进行分析，并用Southern印迹技术对结果进行了验证。结果汉族人群中共检测到33种等位基因，其中CGG重复序列范围为6～43，壮族人群共检测到27种等位基因，CGG重复序列范围为6～57，两类人群中最常见的等位基因分别为28和29。结论应用PCR扩增技术进行了FMR1基因的大面积筛查，中国汉族和壮族人群中FMR1基因CGG重复序列变异分布略有差异。

Objective To detect and analyze the variation of CGG repeats located in the FMR1 gene between the Han and the Zhuang populations. Methods PCR and polyacrylamide gel electrophoresis were used to analyze the variation of CGG repeats located in the FMRlgene in 1060 Han populations（ including 280 males and 780 females） and in 283 Zhuang populations（ including 85 males and 198 females.） , Southern blot was used to verify the results. Results Thirty-three alleles were observed in the Han populations, the CGG repeat number ranging from 6 to 43, and 27 alleles were observed in the Zhuang populations and the CGG repeat number ranging from 6 to 57, respectively. The most frequencies of allele are 28 and 29. Conclusion PCR is used to widely screen the FMR1 gene. The most common CGG repeat number in the Han and the Zhuang populations show some difference.