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目的 为了评估中国人Ⅰ型神经纤维瘤病 (NF1)基因内微卫星ALU、IVS3 8GT5 3 0、EVI2 0CA、IVS2 7GT2 8 4的基因多态性及在基因诊断中的价值。方法 应用聚合酶链反应 (PCR) ,变性聚丙烯凝胶电泳 (PAGE)和银染法分析 112名无血缘关系的中国南方汉人的片段长度多态性。结果 ALU的信息含量 (PIC)为 0 3 12 ,共有 4种等位片段 ;IVS3 8GT5 3 0有 9种等位片段 ,PIC为 0 782 ;EVI2 0CA有 10种等位片段 ,PIC为 0 83 5 ;IVS2 7GT2 8 4的PIC为 0 814 ,有 14种等位片段。结论 研究人群与文献报道的白种人群相比 ,这四种微卫星在种类和分布上有差异 ;IVS3 8GT5 3 0 ,EVI2 0CA ,IVS2 7GT2 8 4是高度多态的遗传标记 ,可用于NF1的连锁基因诊断、法医学的个体鉴定和亲权鉴定。
Objective To evaluate the genetic polymorphism of microsatellite ALU, IVS3 8GT5 3 0, EVI2 0CA, IVS2 7GT2 8 4 in Chinese type 1 neurofibromatosis (NF1) gene and its value in gene diagnosis. Methods The fragment length polymorphisms of 112 unrelated Han Chinese in China were analyzed by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining. Results The information content (PIC) of ALU was 0 3 12. There were 4 alleles in ALU, 9 alleles in IVS3 8GT5 3 0, PIC 0 782, 10 alleles in EVI 2 0CA and PIC 0 83 5 The PIC for IVS2 7GT2 8 4 is 0 814 with 14 alleles. CONCLUSIONS: There are differences in the types and distributions of these four microsatellites between the study population and the white population reported in the literature. IVS3 8GT5 3 0, EVI2 0CA and IVS2 7GT2 8 4 are highly polymorphic genetic markers that can be used in NF1 Linkage gene diagnosis, forensic individual identification and paternity testing.